ID   M337V iPSC clone 1
AC   CVCL_WR47
SY   M337V-1
DR   Wikidata; Q95984221
RX   PubMed=22451909;
CC   Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Met337Val (c.1009A>G); ClinVar=VCV000005228; Zygosity=Heterozygous (PubMed=22451909).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WR48 ! M337V iPSC clone 2
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 9
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RX   PubMed=22451909; DOI=10.1073/pnas.1202922109; PMCID=PMC3326463;
RA   Bilican B., Serio A., Barmada S.J., Nishimura A.L., Sullivan G.J.,
RA   Carrasco M.A., Phatnani H.P., Puddifoot C.A., Story D., Fletcher J.M.,
RA   Park I.-H., Friedman B.A., Daley G.Q., Wyllie D.J.A., Hardingham G.E.,
RA   Wilmut I., Finkbeiner S., Maniatis T., Shaw C.E.D., Chandran S.;
RT   "Mutant induced pluripotent stem cell lines recapitulate aspects of
RT   TDP-43 proteinopathies and reveal cell-specific vulnerability.";
RL   Proc. Natl. Acad. Sci. U.S.A. 109:5803-5808(2012).
//