Cellosaurus cell line (CVCL

Cross-references
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	Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	and the ASXL1 p.R693X mutation. Stem Cell Res. 24:16-20(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