Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1

Nuo Si; Zeya Zhang; Xiaolu Meng; Xin Huang; Changchen Wang; Bo Pan

doi:10.1016/j.scr.2021.102357

Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1

Stem Cell Res. 2021 May:53:102357. doi: 10.1016/j.scr.2021.102357. Epub 2021 Apr 21.

Authors

Nuo Si¹, Zeya Zhang¹, Xiaolu Meng¹, Xin Huang¹, Changchen Wang¹, Bo Pan²

Affiliations

¹ Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, China.
² Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, China. Electronic address: 13810855912@163.com.

PMID: 34087987
DOI: 10.1016/j.scr.2021.102357

Abstract

Congenital microtia is a malformation of the middle and external ear. Duplications involving the ECR, an ear-specific long-range enhancer of HMX1, lead to ear malformation in different species. Use of electroporation of episomal plasmids encodes OCT4, SOX2, NANOG, LIN28, KLF4, and LMYC into peripheral blood mononuclear cells (PBMCs), we generated an induced pluripotent stem cell (iPSCs) line of a microtia patient carrying the duplication involving ECR. The iPSCs express pluripotency markers, have the potential to differentiate into three germ layers, and show the normal karyotype. This patient-specific iPSC will be used for modeling the pathophysiology of ear malformation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Congenital Microtia* / genetics
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Leukocytes, Mononuclear
Plasmids
Transcription Factors / genetics

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Transcription Factors