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Cellosaurus IISHDOi001-A-1 (CVCL_C7T7)

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Cell line name IISHDOi001-A-1
Synonyms MA1-B9
Accession CVCL_C7T7
Resource Identification Initiative To cite this cell line use: IISHDOi001-A-1 (RRID:CVCL_C7T7)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9726; PYGM; Simple_edited; p.Pro49Pro (c.147A>T); Zygosity=Homozygous; Note=By CRISPR/Cas9. Introduces a XhoI restriction site (PubMed=36430443).
  • Mutation; HGNC; HGNC:9726; PYGM; Simple_corrected; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=36430443).
Disease Glycogen storage disease type V (NCIt: C84738)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (ORDO: Orphanet_368)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX71 (IISHDOi001-A)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=36430443; DOI=10.3390/ijms232213964; PMCID=PMC9692531
Maria Carmen Ortuno-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Ines Garcia-Consuegra, Camille Laberthonniere, Megane Delourme, Rafael Garesse, Joaquin Arenas, Carla Fuster-Garcia, Gema Garcia-Garcia, Jose Maria Millan ...Show all 13 authors... , Frederique Magdinier, Maria Esther Gallardo; Show fewer authors
Generation of the first human in vitro model for McArdle disease based on iPSC technology.
Int. J. Mol. Sci. 23:13964.1-13964.26(2022)

Cross-references
Encyclopedic resources Wikidata; Q117704528
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3