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Cellosaurus PSMi006-A (CVCL_WJ37)

[Text version]

Cell line name PSMi006-A
Synonyms HDF39-ARLQT-iPS
Accession CVCL_WJ37
Resource Identification Initiative To cite this cell line use: PSMi006-A (RRID:CVCL_WJ37)
Comments From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
Derived from sampling site: Skin.
Sequence variations Homozygous for KCNQ1 p.Gly179Ser (c.535G>A) (PubMed=31785541).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell

PubMed=31785541; DOI=10.1016/j.scr.2019.101658
Mura M., Bastaroli F., Corli M., Ginevrino M., Calabro F., Boni M., Crotti L., Valente E.M., Schwartz P.J., Gnecchi M.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.
Stem Cell Res. 42:101658-101658(2020)

Cell line databases/resources hPSCreg; PSMi006-A
Entry history
Entry creation24-May-2019
Last entry updated12-Mar-20
Version number3