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Article

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

Stem cell research - 1 Feb 2024

C Mazzotta, V Serpieri, A Orsi, S Cavan, E Rossi, F Stanzial, E M Valente

Abstract excerpt

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 karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as...

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Identifiers

PMID: 38100914
DOI: 10.1016/j.scr.2023.103267
PMCID: PMC10805004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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