Description:
DEAFNESS WITH DNA REPAIR DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,t(9;22)(p22;q11.2).ish (ARSA+, TUPLE 1-;TUPLE 1+, ARSA-)
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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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| 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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| Cytogenetics |
Chromosome 22: TRANSLOCATION Breakpoint 22q11.2 |
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Chromosome 9: TRANSLOCATION Breakpoint 9p22 |
| Remarks |
DD129BE; clinically affected; markedly reduced post-UV plasmid host cell reactivation; hypersensitive to killing by UV; severe sensorineural deafness; tans easily, minimal freckling; 2 pigmented lesions on back removed, originally read as melanoma later revised to Spitz nevi; no basal cell or squamous cell carcinomas; see GM16736 Lymphoid |
| Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH, Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency Human mutation34:1250-9 2013 |
| PubMed ID: 23661601 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) 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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