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Cellosaurus IISHDOi001-A (CVCL_QX71)

[Text version]

Cell line name IISHDOi001-A
Synonyms MA5622-FiPS4F1
Accession CVCL_QX71
Resource Identification Initiative To cite this cell line use: IISHDOi001-A (RRID:CVCL_QX71)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre (IISHDO); Madrid; Spain.
Sequence variations Homozygous for PYGM p.Arg50Ter (c.148C>T) (ClinVar=VCV000002298) (PubMed=28925366).
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 Age unspecified
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/113/Caracteristicas%20-%20Documento_de_Deposito_Lineas_iPS_BNLC_MA5622-FiPS4F1-v3.pdf

PubMed=28925366; DOI=10.1016/j.scr.2017.07.020
Ortuno-Costela M.D.C., Rodriguez-Mancera N., Garcia-Lopez M., Zurita-Diaz F., Moreno-Izquierdo A., Lucia A., Martin M.A., Garesse R., Gallardo M.E.
Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.
Stem Cell Res. 23:188-192(2017)

Cell line databases/resources hPSCreg; IISHDOi001-A
Other Wikidata; Q54897442
Entry history
Entry creation15-Nov-2017
Last entry update02-Jul-2020
Version number8