ID   GM23785
AC   CVCL_BW15
DR   Coriell; GM23785
DR   Wikidata; Q54853308
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5157; HPRT1; Simple; c.532+5G>A (IVS7+5G>A); ClinVar=VCV000010056; Zygosity=Hemizygous (Coriell=GM23785).
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   19Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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