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Cellosaurus UQi008-A (CVCL_D6K1)

[Text version]
Cell line name UQi008-A
Synonyms M8
Accession CVCL_D6K1
Resource Identification Initiative To cite this cell line use: UQi008-A (RRID:CVCL_D6K1)
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:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=38796984).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 47Y
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)

Cross-references
Cell line databases/resources hPSCreg; UQi008-A
Biological sample resources BioSamples; SAMEA114591123
Encyclopedic resources Wikidata; Q127384622
Entry history
Entry creation02-May-2024
Last entry update10-Apr-2025
Version number3