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 Leanne Jiang, Timothy James Tracey, Melinder K. Gill, Stephanie L. Howe, Dominique T. Power, Vanda Bharti, Pamela A. McCombe, Robert David Henderson, Frederik Jacobus Steyn, Shyuan T. Ngo; 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