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Cellosaurus HIMRi007-A (CVCL_D6P2)

[Text version]
Cell line name HIMRi007-A
Synonyms GAA c.-32-13T>G, c.1716C>G hiPSC
Accession CVCL_D6P2
Resource Identification Initiative To cite this cell line use: HIMRi007-A (RRID:CVCL_D6P2)
Comments From: Heimer Institute for Muscle Research; Bochum; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (hPSCreg=HIMRi007-A).
  • Mutation; HGNC; 4065; GAA; Simple; p.His572Gln (c.1716C>G); ClinVar=VCV000929167; Zygosity=Heterozygous (hPSCreg=HIMRi007-A).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
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; HIMRi007-A
Biological sample resources BioSamples; SAMEA114760681
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1