Cellosaurus cell line M337V iPSC clone 1 (CVCL

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) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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 Bilican B., Serio A., Barmada S.J., Nishimura A.L., Sullivan G.J., Carrasco M.A., Phatnani H.P., Puddifoot C.A., Story D., Fletcher J.M., Park I.-H., Friedman B.A., Daley G.Q., Wyllie D.J.A., Hardingham G.E., Wilmut I., Finkbeiner S., Maniatis T., Shaw C.E.D., Chandran S. 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	19-Dec-2024
Version number	9