Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene

Autor:	V. Serpieri, A. Orsi, C. Mazzotta, S. Cavan, E. Rossi, B. Scelsa, E.M. Valente
Rok vydání:	2022
Předmět:	Cell Biology General Medicine Developmental Biology
Zdroj:	Stem cell research. 66
ISSN:	1876-7753
Popis:	We produced an iPSC line from a patient with Joubert syndrome carrying the homozygous c.787dupC variant in the AHI1 gene. The iPSC line was obtained by reprogramming skin fibroblasts, mycoplasma-free, using Sendai-virus-based technique. Characterization of iPSCs showed the same Short Tandem Repeats profile than fibroblasts, normal karyotype, expression of staminal markers (OCT4, SOX2, SSEA4 and NANOG) and ability to differentiate into three germ layers in vitro.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea4e56df9377751db376b730543b61e https://pubmed.ncbi.nlm.nih.gov/36521382 Zobrazit plný text záznamu