Cellosaurus cell line CSCRMi001-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:22954; POGLUT1; Simple; p.Asp233Glu (c.699T>G); ClinVar=VCV000372263; Zygosity=Homozygous (PubMed=29034878).
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
Publications	PubMed=29034878; DOI=10.1016/j.scr.2017.08.020; PMCID=PMC5679726 Wu J.-B., 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 creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	12