Cellosaurus cell line LQTS1-iPSC a1 (CVCL_T879) (original) (raw)

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 creation

03-Feb-2014

Last entry update

29-Jun-2023

Version number

13