ID   GM20950
AC   CVCL_DB09
DR   CLO; CLO_0015360
DR   Coriell; GM20950
DR   Wikidata; Q54851490
CC   Sequence variation: Mutation; HGNC; HGNC:23056; ALG3; Simple; p.Arg171Gln (c.512G>A); ClinVar=VCV000002129; Zygosity=Homozygous (Coriell=GM20950).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126870; Congenital disorder of glycosylation type Id
DI   ORDO; Orphanet_79321; ALG3-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2W
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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