Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome
Summary
Rubinstein Taybi Syndrome (RSTS) is a rare genetic disorder which is caused by mutations in either CREBBP or EP300. RSTS with mutations in CREBBP is known as RSTS-1. We have generated an induced pluripotent stem cell (iPSC) line, IGIBi018-A from an Indian RSTS-patient using the episomal reprogramming method. The CREBBP gene in the patient harbours a nonsense mutation at position NM_004380.3(c.6876 del C). IGIBi018-A iPSC showed expression of pluripotent stem cell markers, has a normal karyotype and could be differentiated into three germ layers. This iPSC line will help to explore the role of CREBBP in RSTS associated developmental defects. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Verma S, Dalabehera S, Maurya R, Singh D, Prasher B, Pandey R, Bapat S, Ramalingam S, Sachidanandan C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103456 |
| PubMed | 38820863 |
| DOI | 10.1016/j.scr.2024.103456 |