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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) 期刊论文

编号：

15D5617D04ED8AF9628DE3EDD2D076A1
作者：

Yin, Tingting^[1];Qian, Yanyan^[1];Zhang, Xi^[1];Liao, Yunfei^[1];Wu, Bingbing(吴冰冰)^[1]Wang, Sujuan(王素娟)^[2]Wang, Huijun(王慧君)^[1,3]
语种：

英文
期刊：

STEM CELL RESEARCH ISSN：1873-5061 2024 年 76 卷 ; APR
收录：
摘要：

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 iPSCs with the confirmed patient -specific mutation were demonstrated by pluripotency markers, a normal karyotype, and the ability to differentiate into three germ layers. This NOVA2-mutant iPSC line could facilitate disease modeling and therapy development studies for NEDASB.
推荐引用方式
GB/T 7714：

Yin Tingting,Qian Yanyan,Zhang Xi, et al. 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) [J].STEM CELL RESEARCH,2024,76.
APA：

Yin Tingting,Qian Yanyan,Zhang Xi,Liao Yunfei,&Wang Huijun.(2024).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,76.
MLA：

Yin Tingting, et al. "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 76(2024).
入库时间：

2025/2/19 12:11:51
更新时间：

2025/2/21 12:42:40

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