GM01454
LCL from B-Lymphocyte
Description:
CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Amino Acid Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Asian
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Gene |
CTH |
Chromosomal Location |
1p31.1 |
Allelic Variant 1 |
607657.0001; CYSTATHIONINURIA |
Identified Mutation |
2 BP DEL, 940CT |
|
Gene |
CTH |
Chromosomal Location |
1p31.1 |
Allelic Variant 2 |
607657.0001; CYSTATHIONINURIA |
Identified Mutation |
2 BP DEL, 940CT |
Cytogenetics |
Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12qter |
|
Chromosome 12: ANEUPLOID Trisomic Segment 12pter>12qter |
Remarks |
Unresponsive to B6; HLA type A28,A2, Bw40,Bw21; 47,XY,+12/47,XY,+12,add(13) (q34); 48%/52%; random chromosome rearrangements are present; donor subject is homozygous for a 2 bp deletion at nucleotide 940 in exon 8 of the CTH gene (940_941delCT) resulting in the substitution of threonine for leucine at codon 262 {Leu262Thr (L262T)] causing a stop codon at 282 |
Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT, Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening Fertility and sterility97:819-824.e2 2011 |
PubMed ID: 22342859 |
|
Wang J, Hegele RA, Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Hum Genet112(4):404-8 2003 |
PubMed ID: 12574942 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
|
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