ID   GM20947
AC   CVCL_DB06
DR   CLO; CLO_0015364
DR   Coriell; GM20947
DR   Wikidata; Q54851487
CC   Sequence variation: Mutation; HGNC; HGNC:23056; ALG3; Simple; p.Trp71Arg (c.211T>C); ClinVar=VCV000002130; Zygosity=Heterozygous (Coriell=GM20947).
CC   Sequence variation: Mutation; HGNC; HGNC:23056; ALG3; Simple; p.Met157Lys (c.470T>A); ClinVar=VCV000002131; Zygosity=Heterozygous (Coriell=GM20947).
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   Female
AG   4Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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