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Cellosaurus CiRA00021 (CVCL_Y961)

[Text version]
Cell line name CiRA00021
Synonyms A21412; HPS0289; HPS0327
Accession CVCL_Y961
Resource Identification Initiative To cite this cell line use: CiRA00021 (RRID:CVCL_Y961)
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.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_T779 ! CiRA00022
CVCL_T780 ! CiRA00023
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 (Providers) RCB; HPS0289 - Discontinued
RCB; HPS0327
Cell line databases/resources SKIP; SKIP000626
Encyclopedic resources Wikidata; Q54813390
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number11