ID   IISHDOi001-A
AC   CVCL_QX71
SY   MA5622-FiPS4F1; MA1
DR   hPSCreg; IISHDOi001-A
DR   Wikidata; Q54897442
RX   PubMed=28925366;
RX   PubMed=36430443;
WW   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
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   Sequence variation: Mutation; HGNC; 9726; PYGM; Simple; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous (PubMed=28925366).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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)
OI   CVCL_C7T5 ! IISHDOi001-B
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 13
//
RX   PubMed=28925366; DOI=10.1016/j.scr.2017.07.020;
RA   Ortuno-Costela M.C., Rodriguez-Mancera N., Garcia-Lopez M.,
RA   Zurita-Diaz F., Moreno-Izquierdo A., Lucia A., Martin M.A.,
RA   Garesse R., Gallardo M.E.;
RT   "Establishment of a human iPSC line (IISHDOi001-A) from a patient with
RT   McArdle disease.";
RL   Stem Cell Res. 23:188-192(2017).
//
RX   PubMed=36430443; DOI=10.3390/ijms232213964;
RA   Ortuno-Costela M.C., Cerrada V., Moreno-Izquierdo A.,
RA   Garcia-Consuegra I., Laberthonniere C., Delourme M., Garesse R.,
RA   Arenas J., Fuster-Garcia C., Garcia-Garcia G., Millan J.M.,
RA   Magdinier F., Gallardo M.E.;
RT   "Generation of the first human in vitro model for McArdle disease
RT   based on iPSC technology.";
RL   Int. J. Mol. Sci. 23:13964.1-13964.26(2022).
//