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Cellosaurus CiRA00026 (CVCL_T783)

[Text version]
Cell line name CiRA00026
Synonyms A3416; HPS0294
Accession CVCL_T783
Resource Identification Initiative To cite this cell line use: CiRA00026 (RRID:CVCL_T783)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
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_T781 ! CiRA00024
CVCL_T782 ! CiRA00025
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 (Providers) RCB; HPS0294
Cell line databases/resources SKIP; SKIP000232
Encyclopedic resources Wikidata; Q54813407
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number13