ID   IISHDOi007-A
AC   CVCL_A4DB
SY   McA2.7; MAMcA2-BiPS4F7
DR   hPSCreg; IISHDOi007-A
DR   Wikidata; Q105509658
RX   PubMed=33370875;
WW   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
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9726; PYGM; Simple; p.Trp798Arg (c.2392T>C); ClinVar=VCV000002312; Zygosity=Homozygous (PubMed=33370875).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84738; Glycogen storage disease type V
DI   ORDO; Orphanet_368; Glycogen storage disease due to muscle glycogen phosphorylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33370875; DOI=10.1016/j.scr.2020.102108;
RA   Cerrada V., Garcia-Lopez M., Alvarez-Galeano S., Moreno-Izquierdo A.,
RA   Lucia A., Rabasa-Perez M., Arenas J., Gallardo M.E.;
RT   "Generation of the iPSC line IISHDOi007-A from peripheral blood
RT   mononuclear cells from a patient with McArdle disease harbouring the
RT   mutation c.2392 T > C; p.Trp798Arg.";
RL   Stem Cell Res. 49:102108-102108(2020).
//