ID   IISHDOi001-B
AC   CVCL_C7T5
SY   MA4
DR   Wikidata; Q117704529
RX   PubMed=36430443;
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=36430443).
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_QX71 ! IISHDOi001-A
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
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).
//