ID   GM15876
AC   CVCL_F509
SY   XP2OS-pCAH19WS; XP20S-pCAH19WS; XP20S(pCAH19WS); GM15876A
DR   CLO; CLO_0018536
DR   Coriell; GM15876
DR   Wikidata; Q54848248
CC   Population: Japanese.
CC   Characteristics: Transfection of wildtype XPA corrects the c.390-1G>C mutation of this gene in the cell line.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 12814; XPA.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZN80 ! XP2OS SV40-transformed
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 10-09-24; Version: 17
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