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Cellosaurus LQTS1-iPSC k1 (CVCL_T880)

[Text version]
Cell line name LQTS1-iPSC k1
Synonyms LQTS1 k1
Accession CVCL_T880
Resource Identification Initiative To cite this cell line use: LQTS1-iPSC k1 (RRID:CVCL_T880)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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_T879 ! LQTS1-iPSC a1
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; SKIP000201 - Discontinued
Encyclopedic resources Wikidata; Q54903002
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number14