Cellosaurus cell line UQi009-A (CVCL

Cross-references
Cell line name	UQi009-A
Synonyms	M15
Accession	CVCL_D6K2
Resource Identification Initiative	To cite this cell line use: UQi009-A (RRID:CVCL_D6K2)
Comments	From: Australian Institute for Bioengineering and Nanotechnology, University of Queensland; Brisbane; Australia. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Asp77Tyr (c.229G>T) (D76Y); ClinVar=VCV000805494; Zygosity=Heterozygous (PubMed=38796984).
Disease	Amyotrophic lateral sclerosis 1 (NCIt: C168749) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	52Y
Category	Induced pluripotent stem cell
Publications	PubMed=38796984; DOI=10.1016/j.scr.2024.103447 Jiang L., Tracey T.J., Gill M.K., Howe S.L., Power D.T., Bharti V., McCombe P.A., Henderson R.D., Steyn F.J., Ngo S.T. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem Cell Res. 78:103447-103447(2024)
Cell line databases/resources	hPSCreg; UQi009-A
Biological sample resources	BioSamples; SAMEA114591125
Encyclopedic resources	Wikidata; Q127384624
Entry history
Entry creation	02-May-2024
Last entry update	10-Apr-2025
Version number	3