ID   GM20100
AC   CVCL_DA80
DR   CLO; CLO_0028337
DR   Coriell; GM20100
DR   Wikidata; Q54850801
CC   Sequence variation: Mutation; HGNC; HGNC:19358; ALG12; Simple; p.Tyr230Asp (c.688T>G); Zygosity=Heterozygous (Coriell=GM20100).
CC   Sequence variation: Mutation; HGNC; HGNC:19358; ALG12; Simple; p.Arg311Cys (c.931C>T); ClinVar=VCV000377465; Zygosity=Heterozygous (Coriell=GM20100).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126873; Congenital disorder of glycosylation type Ig
DI   ORDO; Orphanet_79324; ALG12-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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