GM28730
LCL from B-Lymphocyte
Description:
HOMOCYSTINURIA
CYSTATHIONINE BETA-SYNTHASE; CBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Subject Type
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parent/child discordant pair
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Ethnicity
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Hispanic/Latino
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Country of Origin
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URUGUAY
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
CBS |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
613381.0016; HOMOCYSTINURIA |
| Identified Mutation |
c.572C>T (p.Thr191Met); Among 35 patients from 30 pedigrees with homocystinuria (236200) from the Iberian peninsula and several South American countries, Urreizti et al. (2006) found a high frequency of a 572C-T transition in the CBS gene, resulting in a thr191-to-met (T191M) substitution. The patients were from Spain, Portugal, Colombia, and Argentina. Combined with previously reported studies, the prevalence of T191M among mutant CBS alleles in different countries was 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina, and 0.14 in Brazil. Haplotype analysis suggested a double origin for this mutation. The phenotype was B6-nonresponsive. |
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| Gene |
CBS |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 2 |
613381.0016; HOMOCYSTINURIA |
| Identified Mutation |
c.572C>T (p.Thr191Met); Among 35 patients from 30 pedigrees with homocystinuria (236200) from the Iberian peninsula and several South American countries, Urreizti et al. (2006) found a high frequency of a 572C-T transition in the CBS gene, resulting in a thr191-to-met (T191M) substitution. The patients were from Spain, Portugal, Colombia, and Argentina. Combined with previously reported studies, the prevalence of T191M among mutant CBS alleles in different countries was 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina, and 0.14 in Brazil. Haplotype analysis suggested a double origin for this mutation. The phenotype was B6-nonresponsive. |
| Split Ratio |
1:4 |
| 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 |
- |
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