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)
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Yin T, Qian Y, Zhang X, Liao Y, Wu B, Wang S, Wang H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103369 |
| PubMed | 38430735 |
| DOI | 10.1016/j.scr.2024.103369 |