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GM07441 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

20 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 Black/African American
Family Member 1
Relation to Proband proband
Confirmation Biochemical characterization - other
Species Homo sapiens
Common Name Human
Remarks Elevated sweat chloride; pulmonary involvement; 2 similarly affected sibs; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-A substitution at 3120+1 in intron 16 (3120+1G>A ); a second allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 (621+1G>T); both mutations result in mRNA splicing defects; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T; donor subject is also 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
 
CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 2,2 1,1 2,3 1,2 1,1 2,2 1,2 1,2 2,2 The above results were kindly provided to the Repository by Dr Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. Neither allele shows the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication).
 
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.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0120; CYSTIC FIBROSIS
Identified Mutation IVS16,G>A,+1 (3120+1G>A); Macek at al. [Am. J. Hum. Genet. 60: 1122-1127 (1997)] identified a splicing mutation, 3120+1G-A in intron 16 which occurred with a frequency of 12.3% in African Americans. This mutation was also detected in native African cystic fibrosis patients [Carles et al. J. Med. Genet. 33:802-804 (1996)]. Dork et al. [Am. J. Hum. Genet. 63: 656-662 (1998)] concluded that the 3120+1G-A mutation, which is present in African, Arab, and a few Greek families, probably was derived from a common ancestor because the haplotypes are very similar or identical.
 
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 CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 mRNA splicing defect; CYSTIC FIBROSIS
Identified Mutation 621+1G>T

Phenotypic Data

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Remarks Elevated sweat chloride; pulmonary involvement; 2 similarly affected sibs; donor subject is a compound heterozygote: one allele of the CFTR gene carries a G-to-A substitution at 3120+1 in intron 16 (3120+1G>A ); a second allele of the CFTR gene carries a G-to-T substitution at 621+1 in intron 4 (621+1G>T); both mutations result in mRNA splicing defects; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T; donor subject is also 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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Treff NR, Su J, Tao X, Miller KA, Levy B, Scott RT, A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos Fertility and sterility94:477-84 2009
PubMed ID: 19394599
 
Lee HK, Lewis LD, Tsongalis GJ, Schur BC, Jannetto PJ, Wong SH, Yeo KT, Validation of a CYP2D6 genotyping panel on the NanoChip Molecular Biology Workstation Clinical chemistry53:823-8 2007
PubMed ID: 17363417
 
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
 
Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004
PubMed ID: 15782172
 
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
 
Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986
PubMed ID: 2879439

External Links

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dbSNP dbSNP ID: 10993
Gene Cards CFTR
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:0005887 integral to plasma membrane
GO:0006520 amino acid metabolism
GO:0006555 methionine metabolism
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0008015 circulation
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016491 oxidoreductase activity
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GEO GEO Accession No: GSM617122
NCBI Gene Gene ID:1080
Gene ID:4524
NCBI GTR 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
OMIM 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS

Culture Protocols

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Split Ratio 1:3
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
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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