ID   GM20949
AC   CVCL_DB08
DR   CLO; CLO_0015362
DR   Coriell; GM20949
DR   Wikidata; Q54851489
CC   Sequence variation: Mutation; HGNC; HGNC:23157; ALG6; Simple; c.680+2T>G (IVS7+2T>G); ClinVar=VCV000030421; Zygosity=Heterozygous; Note=Causes skipping of exons 7-12 plus 22 bases of exon 13 (Coriell=GM20949).
CC   Sequence variation: Mutation; HGNC; HGNC:23157; ALG6; Simple; p.Ile299del (c.897_899delAAT) (c.894_896AAT[1]); ClinVar=VCV000030420; Zygosity=Heterozygous (Coriell=GM20949).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126869; Congenital disorder of glycosylation type Ic
DI   ORDO; Orphanet_79320; ALG6-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 16
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