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Cellosaurus XPA7A6B (CVCL_ZQ15)

[Text version]
Cell line name XPA7A6B
Accession CVCL_ZQ15
Resource Identification Initiative To cite this cell line use: XPA7A6B (RRID:CVCL_ZQ15)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; p.Cys108Phe (c.323G>T); ClinVar=VCV000000993; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 12814; XPA; Simple; p.Leu117Glufs*4 (c.349_353delCTTAT) (349del5); ClinVar=VCV000000994; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L758 (XP1PD)
Sex of cell Female
Age at sampling 10Y
Category Transformed cell line
Publications

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Barbis D.P., Schultz R.A., Friedberg E.C.
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

Cross-references
Encyclopedic resources Wikidata; Q98136273
Entry history
Entry creation02-Jul-2020
Last entry update10-Sep-2024
Version number9