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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; 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)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 63Y
Category Induced pluripotent stem cell
Publications

PubMed=32659732; DOI=10.1016/j.scr.2020.101896
Nicolas Leventoux, Satoru Morimoto, Kenju Hara, Shiho Nakamura, Fumiko Ozawa, Shio Mitsuzawa, Tetsuya Akiyama, Ayumi Nishiyama, Naoki Suzuki, Hitoshi Warita, Masashi Aoki, Hideyuki Okano;
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)

Cross-references
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 update10-Apr-2025
Version number7