ID   IISHDOi001-A-1
AC   CVCL_C7T7
SY   MA1-B9
DR   Wikidata; Q117704528
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; HGNC:9726; PYGM; Simple_edited; p.Pro49Pro (c.147A>T); Zygosity=Homozygous; Note=By CRISPR/Cas9. Introduces a XhoI restriction site (PubMed=36430443).
CC   Sequence variation: Mutation; HGNC; HGNC:9726; PYGM; Simple_corrected; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous; Note=By CRISPR/Cas9 (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)
HI   CVCL_QX71 ! IISHDOi001-A
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=36430443; DOI=10.3390/ijms232213964; PMCID=PMC9692531;
RA   Ortuno-Costela, Maria Carmen
RA   Cerrada, Victoria
RA   Moreno-Izquierdo, Ana
RA   Garcia-Consuegra, Ines
RA   Laberthonniere, Camille
RA   Delourme, Megane
RA   Garesse, Rafael
RA   Arenas, Joaquin
RA   Fuster-Garcia, Carla
RA   Garcia-Garcia, Gema
RA   Millan, Jose Maria
RA   Magdinier, Frederique
RA   Gallardo, Maria Esther
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).
//