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Cellosaurus CiRA00022 (CVCL_T779)

[Text version]
Cell line name CiRA00022
Synonyms Cira22; A21421; HPS0290
Accession CVCL_T779
Resource Identification Initiative To cite this cell line use: CiRA00022 (RRID:CVCL_T779)
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_Y961 ! CiRA00021
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)

Cross-references
Cell line collections (Providers) RCB; HPS0290
Cell line databases/resources SKIP; SKIP000228
Encyclopedic resources Wikidata; Q54813392
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number14