Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)
Year: 2021
Type: article
Abstract: 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.
Source: Stem Cell Research
Institutions: Boston Children's Hospital, University of Pennsylvania
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,100
Awards: G1820584063, Diagnosis and genotype-phenotype correlations in early life epilepsy and CDKL5 disorder, Boston Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center, Developmental Synaptopathies Associated with TSC, PTEN, SHANK3 and SynGAP1 Pathogenic Variants
OpenAlex ID: W3134095075