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Cellosaurus CSCRMi001-A (CVCL_QX93)

[Text version]
Cell line name CSCRMi001-A
Synonyms POGLUT1 c.699T > G (D233E)-II.5-3
Accession CVCL_QX93
Resource Identification Initiative To cite this cell line use: CSCRMi001-A (RRID:CVCL_QX93)
Comments From: Center for Stem Cell and Regenerative Medicine (CSCRM), University of Texas Health Science Center; Houston; USA.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
Disease Limb-girdle muscular dystrophy type 2Z (NCIt: C142082)
Autosomal recessive limb-girdle muscular dystrophy type 2Z (ORDO: Orphanet_480682)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell

PubMed=29034878; DOI=10.1016/j.scr.2017.08.020
Wu J., Hunt S.D., Matthias N., Servian-Morilla E., Lo J., Jafar-Nejad H., Paradas C., Darabi R.
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Stem Cell Res. 24:102-105(2017)

Cell line databases/resources hPSCreg; CSCRMi001-A
Encyclopedic resources Wikidata; Q54814567
Entry history
Entry creation15-Nov-2017
Last entry update21-Mar-2023
Version number10