ID   XP65BE LCL
AC   CVCL_M310
SY   Xeroderma Pigmentosum 65 BEthesda LCL; GM16024
DR   CLO; CLO_0018762
DR   Coriell; GM16024
DR   Wikidata; Q54848307
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln136Ter (c.406C>T) (C603T); ClinVar=VCV000016578; Zygosity=Heterozygous (from autologous cell line XP65BE).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala874Thr (c.2620G>A) (G2817A); ClinVar=VCV000016577; Zygosity=Heterozygous (from autologous cell line XP65BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M316 ! XP65BE
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 18
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