Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene
Summary
We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs). Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Mura M, Lee YK, Ginevrino M, Zappatore R, Pisano F, Boni M, Dagradi F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M |
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| Journal | Stem cell research |
| Publication Date | 2018 May;29:157-161 |
| PubMed | 29677589 |
| DOI | 10.1016/j.scr.2018.04.002 |