ID   XP34BE LCL
AC   CVCL_M320
SY   Xeroderma Pigmentosum 34 BEthesda LCL; GM16954
DR   CLO; CLO_0018115
DR   Coriell; GM16954
DR   Wikidata; Q54848813
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ile199Profs*52 (c.594_595insCCCCCCAG) (199insPP); Zygosity=Heterozygous (from autologous cell line XP34BE).
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from autologous cell line XP34BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M321 ! XP34BE
SX   Male
AG   23Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
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