Description:
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED
TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Alternate IDs |
GM17063 [VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED] |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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MEXICAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
8 |
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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 |
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| Gene |
TTPA |
| Chromosomal Location |
8q13.1-q13.3 |
| Allelic Variant 1 |
R221W; ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| Identified Mutation |
ARG221TRP |
| |
| Gene |
TTPA |
| Chromosomal Location |
8q13.1-q13.3 |
| Allelic Variant 2 |
R221W; ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| Identified Mutation |
ARG221TRP |
| Remarks |
Clinically affected with Friedreich-like ataxia; marked weakness; hypotonia; cerebellar deficit; sensory deficit; abolished muscle stretch reflexes; for this donor subject the GAA triplet repeat expansion in the first intron of the frataxin gene is within the normal range for both alleles; donor subject is homozygous for a C>T transition at nucleotide 661 of the TTPA gene resulting in an arg to trp substitution at codon 221 [Arg221Trp (R221W)]; similarly affected brother (not in repository); slow growing culture; |
| Raymond CK, Kas A, Paddock M, Qiu R, Zhou Y, Subramanian S, Chang J, Palmieri A, Haugen E, Kaul R, Olson MV, Ancient haplotypes of the HLA Class II region Genome research15:1250-7 2005 |
| PubMed ID: 16140993 |
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| Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983 |
| PubMed ID: 6219611 |
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| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
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| Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981 |
| PubMed ID: 6458814 |
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| Sorbi S, Blass JP, Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. J Biochem Biophys Methods5:169-76 1981 |
| PubMed ID: 7299037 |
| Passage Frozen |
8 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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