ID   GM20393
AC   CVCL_U302
DR   CLO; CLO_0029578
DR   Coriell; GM20393
DR   Wikidata; Q54851000
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Glu47Gly (c.140A>G); Zygosity=Hemizygous (Coriell=GM20393).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 14
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