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Cellosaurus LQTS1-iPSC a1 (CVCL_T879)

[Text version]
Cell line name LQTS1-iPSC a1
Synonyms LQTS1 a1
Accession CVCL_T879
Resource Identification Initiative To cite this cell line use: LQTS1-iPSC a1 (RRID:CVCL_T879)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Pro631fs*33 (c.1893delC); Zygosity=Heterozygous (PubMed=22739119).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T880 ! LQTS1-iPSC k1
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=22739119; DOI=10.1093/cvr/cvs206
Egashira T., Yuasa S., Suzuki T., Aizawa Y., Yamakawa H., Matsuhashi T., Ohno Y., Tohyama S., Okata S., Seki T., Kuroda Y., Yae K., Hashimoto H., Tanaka T., Hattori F., Sato T., Miyoshi S., Takatsuki S., Murata M., Kurokawa J., Furukawa T., Makita N., Aiba T., Shimizu W., Horie M., Kamiya K., Kodama I., Ogawa S., Fukuda K.
Disease characterization using LQTS-specific induced pluripotent stem cells.
Cardiovasc. Res. 95:419-429(2012)

Cross-references
Cell line databases/resources SKIP; SKIP000200 - Discontinued
Encyclopedic resources Wikidata; Q54903001
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number13