Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation

Autor: Massimiliano Gnecchi, Marina Boni, Manuela Mura, Peter J. Schwartz, Lia Crotti, Yee-Ki Lee, Hung-Fat Tse, Federica Pisano, Enza Maria Valente, Monia Ginevrino, Federica Calabrò
Přispěvatelé: Mura, M, Lee, Y, Pisano, F, Ginevrino, M, Boni, M, Calabrò, F, Crotti, L, Valente, E, Schwartz, P, Tse, H, Gnecchi, M
Jazyk: angličtina
Rok vydání: 2019
Předmět:
0301 basic medicine
Adult
Male
Cellular differentiation
Romano-Ward Syndrome
Induced Pluripotent Stem Cells
BIO/18 - GENETICA
Biology
medicine.disease_cause
03 medical and health sciences
KCNQ1 gene
Kruppel-Like Factor 4
0302 clinical medicine
SOX2
BIO/09 - FISIOLOGIA
medicine
human induced pluripotent stem cell
long qt syndrome
cardiac potassium channel
Myocyte
Humans
Myocytes
Cardiac
Induced pluripotent stem cell
lcsh:QH301-705.5
Cells
Cultured
Mutation
fungi
Cell Differentiation
Cell Biology
General Medicine
MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE
Fibroblasts
Cellular Reprogramming
Phenotype
Cell biology
030104 developmental biology
lcsh:Biology (General)
KLF4
KCNQ1 Potassium Channel
embryonic structures
biological phenomena
cell phenomena
and immunity
030217 neurology & neurosurgery
Developmental Biology
Zdroj: Stem Cell Research, Vol 37, Iss, Pp-(2019)
ISSN: 1873-5061
Popis: We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a male carrier of the heterozygous mutation c.1781 G > A p.R594Q on the KCNQ1 gene. hiPSCs, generated using four retroviruses each encoding for OCT4, SOX2, KLF4 and cMYC, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
Databáze: OpenAIRE
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