ID   GM20942
AC   CVCL_DB03
DR   CLO; CLO_0015367
DR   Coriell; GM20942
DR   Wikidata; Q54851484
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Phe119Leu (c.357C>A); ClinVar=VCV000007711; Zygosity=Heterozygous (Coriell=GM20942).
CC   Sequence variation: Mutation; HGNC; HGNC:9115; PMM2; Simple; p.Arg141His (c.422G>A); ClinVar=VCV000007706; Zygosity=Heterozygous (Coriell=GM20942).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126868; Congenital disorder of glycosylation type Ia
DI   ORDO; Orphanet_79318; PMM2-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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