Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)


CDKL5 Deficiency Disorder (CDD) is a rare X-linked monogenic developmental encephalopathy that is estimated to affect 1:42,000 live births. CDD is caused by pathogenic variants in the CDKL5 gene and is observed in both male and female patients. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from fibroblasts of six unrelated CDD patients-three males and three females. These patients are clinically diagnosed to present with classic CDD phenotypes, including refractory epilepsy and global developmental delay, and are being followed in a longitudinal clinical study. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Chen PF, Chen T, Forman TE, Swanson AC, O'Kelly B, Dwyer SA, Buttermore ED, Kleiman R, Js Carrington S, Lavery DJ, Swanson LC, Olson HE, Sahin M
Journal Stem cell research
Publication Date 2021 May;53:102276
PubMed 33714067
PubMed Central PMC8953930
DOI 10.1016/j.scr.2021.102276

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