Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation


Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lager TW, Zuo J, Alam MS, Calhoun B, Haldar K, Panopoulos AD
Journal Stem cell research
Publication Date 2022 Jul;62:102799
PubMed 35550987
DOI 10.1016/j.scr.2022.102799

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