Cellosaurus cell line IISHDOi007-A (CVCL

Cellosaurus IISHDOi007-A (CVCL_A4DB)

Cross-references
Cell line name	IISHDOi007-A
Synonyms	McA2.7; MAMcA2-BiPS4F7
Accession	CVCL_A4DB
Resource Identification Initiative	To cite this cell line use: IISHDOi007-A (RRID:CVCL_A4DB)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9726; PYGM; Simple; p.Trp798Arg (c.2392T>C); ClinVar=VCV000002312; Zygosity=Homozygous (PubMed=33370875).
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)
Sex of cell	Female
Age at sampling	70Y
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/215/Caracteristicas%20-%20MAMcA2-BiPS4F7%20o%20McA2.7%20Solicitud%20de%20dep%c3%b3sito.pdf
Publications	PubMed=33370875; DOI=10.1016/j.scr.2020.102108 Cerrada V., Garcia-Lopez M., Alvarez-Galeano S., Moreno-Izquierdo A., Lucia A., Rabasa-Perez M., Arenas J., Gallardo M.E. Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg. Stem Cell Res. 49:102108-102108(2020)
Cell line databases/resources	hPSCreg; IISHDOi007-A
Encyclopedic resources	Wikidata; Q105509658
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5