GM15696
Fibroblast from Skin, Unspecified
Description:
NIJMEGEN BREAKAGE SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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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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Adeno-SV40 Hybrid Virus
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Family Member
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1
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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 |
Adeno SV40 1613-transformed GM07166; short stature; microcephaly, and developmental delay; decrease in both B and T cell number and function; no malignancies; T cells show breakage at fragile sites on chromosomes 7 and 14; severe immunodeficiency; see GM07078A Lymphoid and GM15989, the precrisis SV40 transformation of GM07166 |
| Passage Frozen |
10 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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