ID   GM20958
AC   CVCL_DB12
DR   CLO; CLO_0015391
DR   Coriell; GM20958
DR   Wikidata; Q54851493
CC   Sequence variation: Mutation; HGNC; HGNC:7207; MPDU1; Simple; p.Leu119Pro (c.356T>C); ClinVar=VCV000005868; Zygosity=Homozygous (Coriell=GM20958).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126872; Congenital disorder of glycosylation type If
DI   ORDO; Orphanet_79323; MPDU1-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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