Cellosaurus cell line M337V iPSC clone 1 (CVCL

Cellosaurus M337V iPSC clone 1 (CVCL_WR47)

Cross-references
Cell line name	M337V iPSC clone 1
Synonyms	M337V-1
Accession	CVCL_WR47
Resource Identification Initiative	To cite this cell line use: M337V iPSC clone 1 (RRID:CVCL_WR47)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Met337Val (c.1009A>G); ClinVar=VCV000005228; Zygosity=Heterozygous (PubMed=22451909).
Disease	Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WR48 ! M337V iPSC clone 2
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=22451909; DOI=10.1073/pnas.1202922109; PMCID=PMC3326463 Bilada Bilican, Andrea Serio, Sami J. Barmada, Agnes Lumi Nishimura, Gareth J. Sullivan, Monica A. Carrasco, Hemali P. Phatnani, Clare A. Puddifoot, David Story, Judy M. Fletcher, In-Hyun Park ...Show all 20 authors... , Brad A. Friedman, George Quentin Daley, David J.A. Wyllie, Giles Edward Hardingham, Ian Wilmut, Steven Finkbeiner, Tom Maniatis, Christopher Edward Dennistoun Shaw, Siddharthan Chandran; Show fewer authors Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc. Natl. Acad. Sci. U.S.A. 109:5803-5808(2012)
Encyclopedic resources	Wikidata; Q95984221
Entry history
Entry creation	05-Jul-2019
Last entry update	10-Apr-2025
Version number	10