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)-Reference-Cited by-同舟云学术

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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)

Published:2024-04 Issue: Volume:76 Page:103369
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

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

Publisher

Elsevier BV

Reference3 articles.

1. De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal extension and cause a severe form of neurodevelopmental disorder;Mattioli;Am. J. Hum. Genet.,2020

2. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes;Scala;Hum. Mutat.,2022

3. Generation of an induced pluripotent stem cell line from an alström syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line;Ji;Stem Cell Res.,2020

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