Cellosaurus cell line IISHDOi001-B (CVCL

Cross-references
Cell line name	IISHDOi001-B
Synonyms	MA4
Accession	CVCL_C7T5
Resource Identification Initiative	To cite this cell line use: IISHDOi001-B (RRID:CVCL_C7T5)
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; 9726; PYGM; Simple; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous (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)
Originate from same individual	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 Ortuno-Costela M.C., Cerrada V., Moreno-Izquierdo A., Garcia-Consuegra I., Laberthonniere C., Delourme M., Garesse R., Arenas J., Fuster-Garcia C., Garcia-Garcia G., Millan J.M., Magdinier F., Gallardo M.E. 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)
Encyclopedic resources	Wikidata; Q117704529
Entry history
Entry creation	21-Mar-2023
Last entry update	29-Jun-2023
Version number	2