ID   LQTS1-iPSC k1
AC   CVCL_T880
SY   LQTS1 k1
DR   SKIP; SKIP000201
DR   Wikidata; Q54903002
RX   PubMed=22739119;
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Pro631fs*33 (c.1893delC); Zygosity=Heterozygous (PubMed=22739119).
CC   Discontinued: SKIP; SKIP000201; probable.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T879 ! LQTS1-iPSC a1
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 13
//
RX   PubMed=22739119; DOI=10.1093/cvr/cvs206;
RA   Egashira T., Yuasa S., Suzuki T., Aizawa Y., Yamakawa H.,
RA   Matsuhashi T., Ohno Y., Tohyama S., Okata S., Seki T., Kuroda Y.,
RA   Yae K., Hashimoto H., Tanaka T., Hattori F., Sato T., Miyoshi S.,
RA   Takatsuki S., Murata M., Kurokawa J., Furukawa T., Makita N., Aiba T.,
RA   Shimizu W., Horie M., Kamiya K., Kodama I., Ogawa S., Fukuda K.;
RT   "Disease characterization using LQTS-specific induced pluripotent stem
RT   cells.";
RL   Cardiovasc. Res. 95:419-429(2012).
//