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从一位患有新生儿起病癫痫和非综合征性智力障碍的女孩（UNINAi001-A）和一位无携带、无患病的兄弟（UNINAi002-A）中生成 iPSC 系。该女孩携带 KCNQ3 p.PHE534ILEfs*15 变异的纯合子，男孩无此变异。

Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.

机构信息

Departments of Neuroscience and Molecular Medicine and Medical Biotechnology, University bf Naples "Federico II", Naples, Italy.

Departments of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.

出版信息

Stem Cell Res. 2021 May;53:102311. doi: 10.1016/j.scr.2021.102311. Epub 2021 Mar 24.

DOI:10.1016/j.scr.2021.102311
PMID:33799276
Abstract

Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential.

摘要

KCNQ3 基因的杂合变异可导致严重程度不同的癫痫和/或发育障碍。在这里，我们描述了从一名 9 岁女孩诱导多能干细胞 (iPSC) 的产生，该女孩患有药物依赖性新生儿期癫痫和智力障碍，携带 KCNQ3 基因外显子 12 中的纯合单碱基重复 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15)，而该女孩的非携带者弟弟也是先证者。为了生成 iPSC，使用非整合的附加体质粒载体转染从皮肤活检中分离的成纤维细胞。获得的 iPSC 系具有正常的核型，表现出胚胎干细胞样形态，表达多能性标记，并具有三系分化潜能。

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