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

Aisha L. Siebert; Grace B. Schwartz; Hana Kubo; Monica M. Laronda

Stem Cell Research (Sep 2023)

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

Aisha L. Siebert,
Grace B. Schwartz,
Hana Kubo,
Monica M. Laronda

Affiliations

Aisha L. Siebert: 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
Grace B. Schwartz: 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
Hana Kubo: 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
Monica M. Laronda: 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; Corresponding author at: Department of Endocrinology, Department of Surgery at the Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, USA.

Journal volume & issue: Vol. 71
p. 103154

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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