ID   GM12010
AC   CVCL_L492
SY   RJK 2163; RJK2163
DR   CLO; CLO_0020483
DR   Coriell; GM12010
DR   Wikidata; Q54845444
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Arg45Lys (c.134G>A); ClinVar=VCV000010048; Zygosity=Hemizygous (Coriell=GM12010).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9M
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 16
//