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Cellosaurus CiRA00023 (CVCL_T780)

[Text version]

Cell line name CiRA00023
Synonyms A21428; HPS0291
Accession CVCL_T780
Resource Identification Initiative To cite this cell line use: CiRA00023 (RRID:CVCL_T780)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 11571; TARDBP; Simple; p.Gln343Arg (c.1028A>G); ClinVar=VCV000005235; Zygosity=Heterozygous (PubMed=22855461).
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_Y961 ! CiRA00021
CVCL_T779 ! CiRA00022
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=22855461; DOI=10.1126/scitranslmed.3004052
Egawa N., Kitaoka S., Tsukita K., Naitoh M., Takahashi K., Yamamoto T., Adachi F., Kondo T., Okita K., Asaka I., Aoi T., Watanabe A., Yamada Y., Morizane A., Takahashi J., Ayaki T., Ito H., Yoshikawa K., Yamawaki S., Suzuki S., Watanabe D., Hioki H., Kaneko T., Makioka K., Okamoto K., Takuma H., Tamaoka A., Hasegawa K., Nonaka T., Hasegawa M., Kawata A., Yoshida M., Nakahata T., Takahashi R., Marchetto M.C.N., Gage F.H., Yamanaka S., Inoue H.
Drug screening for ALS using patient-specific induced pluripotent stem cells.
Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012)

PubMed=30127392; DOI=10.1038/s41591-018-0140-5
Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R., Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.
Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent.
Nat. Med. 24:1579-1589(2018)

Cross-references
Cell line collections RCB; HPS0291
Cell line databases/resources SKIP; SKIP000229
Encyclopedic resources Wikidata; Q54813393
Entry history
Entry creation03-Feb-2014
Last entry update17-Mar-2022
Version number11