ID   RCMGi016-A
AC   CVCL_E4EP
SY   P17L16
DR   BioSamples; SAMEA115109065
DR   hPSCreg; RCMGi016-A
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Arg83Cys (c.247C>T); ClinVar=VCV000011998; Zygosity=Homozygous (hPSCreg=RCMGi016-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162398; Glycogen storage disease type Ia
DI   ORDO; Orphanet_79258; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
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