ID   XP30BE LCL
AC   CVCL_M291
SY   Xeroderma Pigmentosum 30 BEthesda LCL; GM05791
DR   CLO; CLO_0024663
DR   Coriell; GM05791
DR   Wikidata; Q54841939
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gln368Argfs*6 (c.1103_1104delAA) (delAA1208-1209); ClinVar=VCV000267279; Zygosity=Heterozygous (Coriell=GM05791).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM05791).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M292 ! XP30BE
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 19
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