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Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.

Stem cell research - 1 Oct 2024

Jiang Congshan, Huang Wenjun, Zhou Yafei, Wang Jie, Lei Hong, Niu Youguo, Zhou Rui, Zhang Yanmin

Abstract excerpt

Timothy syndrome, an extremely rare disease, is closely associated with a mutation in CACNA1C gene, which encodes the cardiac L-type voltage-gated calcium channel (Cav1.2). In this study, we generated a human induced pluripotent stem cell (iPSC) line from a Timothy syndrome infant carrying heterozygous CACNA1C mutation (transcript variant NM_000719.7c.1216G>A: p.G406R). The generated iPSC line showed typical stem...

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PMID: 39079396
DOI: 10.1016/j.scr.2024.103513

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.PMID 39079396Read ↗

Timothy syndrome iPSC modeling.Semantic proximity Read ↗

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Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene.Semantic proximity Read ↗

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