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Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome

Authors :
Shweta Verma
Sujit Dalabehera
Ranjeet Maurya
Dayanidhi Singh
Bhavana Prasher
Rajesh Pandey
Sharmila Bapat
Sivaprakash Ramalingam
Chetana Sachidanandan
Source :
Stem Cell Research, Vol 78, Iss , Pp 103456- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
78
Issue :
103456-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.f56e9f250aee4719b19b365bc52e9f1e
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2024.103456