Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions

Ewelina Dwojak; Danielle O'Mard; Jizhong Zou; Christopher A Wassif; Sandra Burkett; Michael Eckhaus; Fabio Rueda Faucz; Cameron Padilla; Rafael Villasmil; Wei Zheng; An N Dang Do

doi:10.1016/j.scr.2024.103563

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions

Stem Cell Res. 2024 Sep 18:81:103563. doi: 10.1016/j.scr.2024.103563. Online ahead of print.

Authors

Affiliations

¹ Unit on Cellular Stress in Development and Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
² iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
³ Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
⁴ Molecular Cytogenetics Core Facility, National Cancer Institute, Frederick, MD, USA.
⁵ Diagnostic and Research Services Branch, Office of the Director, National Institutes of Health, Bethesda, MD, USA.
⁶ Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
⁷ Flow Cytometry Core Facility, National Eye Institute, Bethesda, MD, USA.
⁸ Therapeutic Development Branch, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
⁹ Unit on Cellular Stress in Development and Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA. Electronic address: an.dangdo@nih.gov.

PMID: 39317061
DOI: 10.1016/j.scr.2024.103563

Abstract

Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B, CHDTRi002-B, CHDTRi003-A, CHDTRi004-B, CHDTRi005-A, and CHDTRi006-E through the expression of four reprogramming factors: human OCT3/4, KLF4, SOX2, and c-MYC. The iPSC lines were characterized to confirm their pluripotency via immunocytochemistry, flow cytometry, and teratoma formation. Genomic stability, cell line identity, and CLN3 genotype were confirmed. These iPSC lines may be used as participant-derived experimental models for further investigation of CLN3, a rare, fatal, pediatric, blindness and neurodegenerative lysosomal disorder with no cure.

Published by Elsevier B.V.