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GM13591 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HEMOCHROMATOSIS; HFE
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
HOMEOSTATIC IRON REGULATOR; HFE

Affected:

Yes

Sex:

Female

Age:

32 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Mild symptoms; donor subject is a compound heterozygote for mutations in the CFTR gene: allele one carries a deletion of codon 508 (CTT) in exon 10 which leads to deletion of phenylalanine-508 [PHE508DEL] and allele two carries a G-to-A transition at nucleotide 482 (482G>A) in exon 4, resulting in a change of arginine to histidine [ARG117HIS (R117H)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 5T/9T; donor subject is homozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
MUTATION VERIFICATION The CFTR mutations in this cell line have been verified by 6 laboratories. Methods used for mutation identification include: commercial kits (ABI and Roche); electrophoresis for RFLP and size analysis; sequencing; mutation scanning (heteroduplex analysis, dHPLC, SSCP, DGGE); chip technology; oligonucleotide ligation assay.
 
MUTATION VERIFICATION The CFTR mutations in this cell line have been verified by 6 laboratories. Methods used for mutation identification include: commercial kits (ABI and Roche); electrophoresis for RFLP and size analysis; sequencing; mutation scanning (heteroduplex analysis, dHPLC, SSCP, DGGE); chip technology; oligonucleotide ligation assay.
 
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR The CFTR gene mutation data for this repository number was verified by sequencing.
 
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR The CFTR gene mutation data for this repository number was verified by sequencing.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0001; CYSTIC FIBROSIS
Identified Mutation PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0001; CYSTIC FIBROSIS
Identified Mutation PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 1 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 1 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.
 
Gene MTHFR
Chromosomal Location 1p36.3
Allelic Variant 1 607093.0003; MTHFR THERMOLABILE POLYMORPHISM
Identified Mutation 677C>T; Frosst et al. [Nature Genet. 10: 111-113 (1995)] identified a C-to-T substitution at nucleotide 677 that converted an alanine to a valine residue. The alteration created a HinfI site that was used to screen 114 unselected French-Canadian chromosomes; the allele frequency of the substitution was 0.38. The mutation in the heterozygous or homozygous state correlated with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of the mutagenized cDNA containing the mutation confirmed its effect on thermolability of MTHFR. Individuals homozygous for the mutation had significantly elevated plasma homocysteine levels. Thus, the 677C-T mutation may represent an important genetic risk factor in vascular disease.
 
Gene MTHFR
Chromosomal Location 1p36.3
Allelic Variant 1 607093.0003; MTHFR THERMOLABILE POLYMORPHISM
Identified Mutation 677C>T; Frosst et al. [Nature Genet. 10: 111-113 (1995)] identified a C-to-T substitution at nucleotide 677 that converted an alanine to a valine residue. The alteration created a HinfI site that was used to screen 114 unselected French-Canadian chromosomes; the allele frequency of the substitution was 0.38. The mutation in the heterozygous or homozygous state correlated with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of the mutagenized cDNA containing the mutation confirmed its effect on thermolability of MTHFR. Individuals homozygous for the mutation had significantly elevated plasma homocysteine levels. Thus, the 677C-T mutation may represent an important genetic risk factor in vascular disease.
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 2 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 2 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 602421.0005; CYSTIC FIBROSIS
Identified Mutation ARG117HIS; In 2 presumably unrelated families with mild CF, Dean et al. [Cell 61: 863-870 (1990)] found a G-to-A transition at nucleotide 482 in exon 4, resulting in a change of arginine to histidine (R117H).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 602421.0005; CYSTIC FIBROSIS
Identified Mutation ARG117HIS; In 2 presumably unrelated families with mild CF, Dean et al. [Cell 61: 863-870 (1990)] found a G-to-A transition at nucleotide 482 in exon 4, resulting in a change of arginine to histidine (R117H).

Phenotypic Data

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Remarks Mild symptoms; donor subject is a compound heterozygote for mutations in the CFTR gene: allele one carries a deletion of codon 508 (CTT) in exon 10 which leads to deletion of phenylalanine-508 [PHE508DEL] and allele two carries a G-to-A transition at nucleotide 482 (482G>A) in exon 4, resulting in a change of arginine to histidine [ARG117HIS (R117H)]; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 5T/9T; donor subject is homozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]

Publications

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Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023
PubMed ID: 38524212
 
Leung ML, Watson DJ, Vaccaro CN, Mafra F, Wenocur A, Wang T, Hakonarson H, Santani A, Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel Scientific data7:8 2019
PubMed ID: 31913291
 
Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005
PubMed ID: 16244288
 
Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004
PubMed ID: 15507674
 
Pont-Kingdon G, Jama M, Miller C, Millson A, Lyon E, Long-range (177 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene The Journal of molecular diagnostics : JMD6:264-70 2004
PubMed ID: 15269305
 
Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004
PubMed ID: 14709668
 
Bernacki SH, Farkas DH, Shi W, Chan V, Liu Y, Beck JC, Bailey KS, Pratt VM, Monaghan KG, Matteson KJ, Schaefer FV, Friez M, Shrimpton AE, Stenzel TT, Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations. Arch Pathol Lab Med127(12):1565-72 2003
PubMed ID: 14632577
 
Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000
PubMed ID: 10973900

External Links

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dbSNP dbSNP ID: 11818
Gene Cards CFTR
HFE
MTHFR
Gene Ontology GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity
GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005737 cytoplasm
GO:0005887 integral to plasma membrane
GO:0006461 protein complex assembly
GO:0006520 amino acid metabolism
GO:0006555 methionine metabolism
GO:0006810 transport
GO:0006811 ion transport
GO:0006826 iron ion transport
GO:0006879 iron ion homeostasis
GO:0006898 receptor mediated endocytosis
GO:0006955 immune response
GO:0007585 respiratory gaseous exchange
GO:0008015 circulation
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016491 oxidoreductase activity
GO:0019883 antigen presentation, endogenous antigen
GO:0019885 antigen processing, endogenous antigen via MHC class I
GO:0030106 MHC class I receptor activity
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene Gene ID:1080
Gene ID:3077
Gene ID:4524
NCBI GTR 219700 CYSTIC FIBROSIS; CF
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
613609 HOMEOSTATIC IRON REGULATOR; HFE
OMIM 219700 CYSTIC FIBROSIS; CF
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
613609 HOMEOSTATIC IRON REGULATOR; HFE
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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