Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied...

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Hlavní autoři: Mazzotta C., Serpieri V., Orsi A., Cavan S., Rossi E., Stanzial F., Valente E.M.
Médium: Článek
Jazyk:English
Vydáno: Elsevier 2024-02-01
Edice:Stem Cell Research
On-line přístup:http://www.sciencedirect.com/science/article/pii/S1873506123002532

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http://www.sciencedirect.com/science/article/pii/S1873506123002532

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