Induced pluripotent stem cell line generated from a patient with differences in sex development (DSD) and multiple genetic variants including a large deletion in NR5A1.

Autor:	Siebert AL; Department of Endocrinology, Department of Surgery at the Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, USA; Department of Urology, Feinberg School of Medicine, Northwestern University, USA., Schwartz GB; Department of Endocrinology, Department of Surgery at the Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, USA., Kubo H; Department of Endocrinology, Department of Surgery at the Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, USA., Laronda MM; Department of Endocrinology, Department of Surgery at the Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, USA. Electronic address: mlaronda@luriechildrens.org.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103154. Date of Electronic Publication: 2023 Jun 27.
DOI:	10.1016/j.scr.2023.103154
Abstrakt:	The nuclear receptor subfamily 5, Group A, Member 1 (NR5A1) gene encodes steroidogenic factor 1 (SF1), which is necessary for development of steroid hormone-producing tissues including the gonad and adrenal gland. An induced pluripotent stem cell line (iPSC) LCHi002-B was generated from a participant with differences (disorders) of sex development (DSD) and multiple genetic variants including a large deletion in NR5A1, and three single nucleotide changes in DYNC2H1, PDE4D, and ZFPM2. The line presented typical morphology, expressed stem cell markers, differentiated into three germ layers, had normal karyotype, was mycoplasma-free, and carried mutations in NR5A1, DYNC2H1, PDE4D, and ZFPM2. Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Monica M Laronda reports financial support was provided by Burroughs Wellcome Fund. (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu