GM05282
Fibroblast from Skin, Unspecified
Description:
FRAGILE X MENTAL RETARDATION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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Black/African American
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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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| Remarks |
Skin fibroblast culture; oldest halfbrother is mentally retarded & expresses fra(X); another half-brother is mentally retarded; mother does not express the fra(X); 1.3% to 6% of fibroblasts showed 46,fra(X),Y |
| Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006 |
| PubMed ID: 17101793 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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