ID   XP87BE LCL
AC   CVCL_M315
SY   Xeroderma Pigmentosum 87 BEthesda LCL; GM16385
DR   CLO; CLO_0019398
DR   BioSample; SAMN00804506
DR   Coriell; GM16385
DR   Wikidata; Q54848494
CC   Population: Jewish; Ashkenazi/Sephardic.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (Coriell=GM16385).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys522Ter (c.1564A>T); ClinVar=VCV000549952; Zygosity=Heterozygous (Coriell=GM16385).
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_M314 ! XP87BE
SX   Male
AG   14Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 18
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