ID   GM27389
AC   CVCL_YN42
DR   Coriell; GM27389
DR   Wikidata; Q93933211
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (Coriell=GM27389).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//