Cellosaurus cell line IISHDOi001-A (CVCL

Cellosaurus IISHDOi001-A (CVCL_QX71)

[Text version]

Cell line name

IISHDOi001-A

Synonyms

MA5622-FiPS4F1; MA1

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; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:9726; PYGM; Simple; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous (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)

Hierarchy

Children:

CVCL_C7T7 (IISHDOi001-A-1)

Originate from same individual

CVCL_C7T5 ! IISHDOi001-B

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

Publications

PubMed=28925366; DOI=10.1016/j.scr.2017.07.020
Ortuno-Costela M.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)

PubMed=36430443; DOI=10.3390/ijms232213964; PMCID=PMC9692531
Ortuno-Costela M.C., Cerrada V., Moreno-Izquierdo A., Garcia-Consuegra I., Laberthonniere C., Delourme M., Garesse R., Arenas J., Fuster-Garcia C., Garcia-Garcia G., Millan J.M., Magdinier F., Gallardo M.E.
Generation of the first human in vitro model for McArdle disease based on iPSC technology.
Int. J. Mol. Sci. 23:13964.1-13964.26(2022)

Cross-references

Cell line databases/resources

hPSCreg; IISHDOi001-A

Encyclopedic resources

Wikidata; Q54897442

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number