ID   LQTS1-iPSC a1
AC   CVCL_T879
SY   LQTS1 a1
DR   SKIP; SKIP000200
DR   Wikidata; Q54903001
RX   PubMed=22739119;
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Pro631fs*33 (c.1893delC); Zygosity=Heterozygous (PubMed=22739119).
CC   Discontinued: SKIP; SKIP000200; 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_T880 ! LQTS1-iPSC k1
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).
//