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Cellosaurus KEIOi001-A (CVCL_ZY38)

[Text version]
Cell line name KEIOi001-A
Synonyms SM4-4-5
Accession CVCL_ZY38
Resource Identification Initiative To cite this cell line use: KEIOi001-A (RRID:CVCL_ZY38)
Comments From: Keio University; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11571; TARDBP; Simple; p.Asn345Lys (c.1035C>G); Zygosity=Heterozygous (PubMed=32659732).
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)
Sex of cell Male
Age at sampling 63Y
Category Induced pluripotent stem cell

PubMed=32659732; DOI=10.1016/j.scr.2020.101896
Nicolas L., Satoru M., Kenju H., Shiho N., Fumiko O., Shio M., Tetsuya A., Ayumi N., Naoki S., Hitoshi W., Masashi A., Hideyuki O.
Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation.
Stem Cell Res. 47:101896-101896(2020)

Cell line databases/resources hPSCreg; KEIOi001-A
SKIP; SKIP005865
Biological sample resources BioSamples; SAMEA6907386
Encyclopedic resources Wikidata; Q102114414
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5