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Cellosaurus CiRA00025 (CVCL_T782)

[Text version]
Cell line name CiRA00025
Synonyms A3415; HPS0293
Accession CVCL_T782
Resource Identification Initiative To cite this cell line use: CiRA00025 (RRID:CVCL_T782)
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_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)

Cross-references
Cell line collections (Providers) RCB; HPS0293
Cell line databases/resources SKIP; SKIP000231
Encyclopedic resources Wikidata; Q54813406
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number13