GM04489
Fibroblast from Skin, Arm
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
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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 |
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Biopsy Source
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Arm
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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, Arm
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Race
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Black/African American
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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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| Passage Frozen |
2 |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
skipped ex 12; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
skipped ex 12; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC |
| Remarks |
XP25BE; freckling; photophobia; eye lesions; see GM04490 Lymphoid; donor subject is homozygous for a 2 bp deletion in intron 11 of the XPC gene (IVS11-1_IVS11-2delAG)and a 2 bp insertion between -6 and -7 (IVS11-6_IVS11-7insCC) leading to three alternately spliced XPC mRNA isoforms: one with exon 12 skipped, one with the deletion of 44 bp at the 5' end of exon 12, and one with retention of intron 11 |
| Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005 |
| PubMed ID: 16081512 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
20% fetal bovine serum Not inactivated |
| Supplement |
- |
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