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Cellosaurus RCMGi016-A (CVCL_E4EP)

[Text version]
Cell line name RCMGi016-A
Synonyms P17L16
Accession CVCL_E4EP
Resource Identification Initiative To cite this cell line use: RCMGi016-A (RRID:CVCL_E4EP)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Arg83Cys (c.247C>T); ClinVar=VCV000011998; Zygosity=Homozygous (hPSCreg=RCMGi016-A).
Disease Glycogen storage disease type Ia (NCIt: C162398)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (ORDO: Orphanet_79258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; RCMGi016-A
Biological sample resources BioSamples; SAMEA115109065
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1