ID   GM20944
AC   CVCL_DB04
DR   CLO; CLO_0015366
DR   Coriell; GM20944
DR   Wikidata; Q54851485
CC   Sequence variation: Mutation; HGNC; HGNC:3005; DPM1; Simple; p.Arg92Gly (c.274C>G); ClinVar=VCV000006296; Zygosity=Homozygous (Coriell=GM20944).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126871; Congenital disorder of glycosylation type Ie
DI   ORDO; Orphanet_79322; DPM1-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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