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Cellosaurus CiRA00024 (CVCL_T781)

[Text version]

Cell line name CiRA00024
Synonyms A3411; HPS0292
Accession CVCL_T781
Resource Identification Initiative To cite this cell line use: CiRA00024 (RRID:CVCL_T781)
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.Met337Val (c.1009A>G); ClinVar=VCV000005228; 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_T782 ! CiRA00025
CVCL_T783 ! CiRA00026
Sex of cell Female
Age at sampling 62Y
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; HPS0292
Cell line databases/resources SKIP; SKIP000230
Encyclopedic resources Wikidata; Q54813405
Entry history
Entry creation03-Feb-2014
Last entry update17-Mar-2022
Version number11