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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
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)

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