ID   GM14553
AC   CVCL_FA40
DR   CLO; CLO_0031591
DR   Coriell; GM14553
DR   Wikidata; Q54847303
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3356; ENPP1; Simple; p.Tyr312Ter (c.936T>G); Zygosity=Heterozygous (Coriell=GM14553).
CC   Sequence variation: Mutation; HGNC; HGNC:3356; ENPP1; Simple; p.Asn792Ser (c.2375A>G); Zygosity=Heterozygous (Coriell=GM14553).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C128805; Generalized arterial calcification of infancy 1
DI   ORDO; Orphanet_51608; Generalized arterial calcification of infancy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1W
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 12
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