Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation
| Autor: | Matteo Pedrazzini, Alessandra Morgante, Marianna Paulis, Salvatore Sciacchitano, Fiorenza Magi, Leonardo Calò, Alessandra Ulivieri, Marcella Rocchetti, Luca Lavra, Leila B. Salehi, Luca Sala, Patrizio Polisca |
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| Přispěvatelé: | Lavra, L, Magi, F, Ulivieri, A, Morgante, A, Paulis, M, Sala, L, Pedrazzini, M, Polisca, P, Rocchetti, M, Calo, L, Sciacchitano, S, Salehi, L |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
QH301-705.5 induced pluripotent stem cells Romano-Ward Syndrome Germ layer Biology medicine.disease_cause Induced Pluripotent Stem Cell Cell Line 03 medical and health sciences 0302 clinical medicine cell Line humans KCNQ1 potassium channel mutation medicine Biology (General) Induced pluripotent stem cell Mutation Cell Biology General Medicine Cell biology 030104 developmental biology KCNQ1 Potassium Channel Reprogramming Ipsc line 030217 neurology & neurosurgery Developmental Biology Human |
| Zdroj: | Stem Cell Research, Vol 54, Iss, Pp 102418-(2021) |
| Popis: | In this study we describe the generation and characterization of an human induced pluripotent stem cell (hiPSC) line from a long QT syndrome type 1 (LQT1) patient carrying the KCNQ1 c.940 G > A (p.Gly314Ser) mutation. This patient-specific iPSC line has been obtained by using non-integrational Sendai reprogramming method, expresses pluripotency markers and has the capacity to differentiate into the three germ layers and into spontaneously beating cardiomyocytes (iPSC-CMs). |
| Databáze: | OpenAIRE |
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