ID   KEIOi001-A
AC   CVCL_ZY38
SY   SM4-4-5
DR   BioSamples; SAMEA6907386
DR   hPSCreg; KEIOi001-A
DR   SKIP; SKIP005865
DR   Wikidata; Q102114414
RX   PubMed=32659732;
CC   From: Keio University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 11571; TARDBP; Simple; p.Asn345Lys (c.1035C>G); Zygosity=Heterozygous (PubMed=32659732).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
SX   Male
AG   63Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32659732; DOI=10.1016/j.scr.2020.101896;
RA   Leventoux N., Morimoto S., Hara K., Nakamura S., Ozawa F.,
RA   Mitsuzawa S., Akiyama T., Nishiyama A., Suzuki N., Warita H.,
RA   Aoki M., Okano H.;
RT   "Generation of an ALS human iPSC line KEIOi001-A from peripheral blood
RT   of a Charcot disease-affected patient carrying TARDBP p.N345K
RT   heterozygous SNP mutation.";
RL   Stem Cell Res. 47:101896-101896(2020).
//