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Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del).

Stem cell research - 1 Apr 2024

Yin Tingting, Qian Yanyan, Zhang Xi, Liao Yunfei, Wu Bingbing, Wang Sujuan, Wang Huijun

Abstract excerpt

Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is a rare autosomal dominant disorder caused by a heterozygous mutation in the NOVA2 gene on chromosome 19q13. Here, we describe the generation and characterization of an iPSC line derived from the peripheral blood of a 7-year-old patient carrying a novel heterozygous mutation in NOVA2 (c.625 del). The...

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PMID: 38430735
DOI: 10.1016/j.scr.2024.103369

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