ID   GM12012
AC   CVCL_L494
SY   RJK 2397; RJK2397
DR   CLO; CLO_0020463
DR   Coriell; GM12012
DR   Wikidata; Q54845446
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Gly40Glu (c.119G>A) (G39E); Zygosity=Hemizygous (Coriell=GM12012).
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   4Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 15
//