TY - JOUR
T1 - 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
AU - Siebert, Aisha L.
AU - Schwartz, Grace B.
AU - Kubo, Hana
AU - Laronda, Monica M.
N1 - Funding Information:
This work was supported by the Ann & Robert H. Lurie Children’s Hospital of Chicago (Lurie Children’s) Department of Surgery Faculty Practice Plan Grant (MML), the Warren & Eloise Batts endowment (MML), and a Burroughs Wellcome Fund Career Award at the Scientific Interface (#1014568, MML). This work was also supported by several research cores at Northwestern University including the Flow Cytometry Core Facility supported by Cancer Center Support Grant (NCI CA060553), the NUSeq Core Facility, and Dr. Kai Lee Yap at the Molecular Diagnostics Laboratory at Ann & Robert H. Lurie Children’s Hospital of Chicago. Thank you to Shaina Goff, Courtney Finlayson, MD, Emilie Johnson, MD, MPH, and the rest of the clinical team at the Fertility & Hormone Preservation & Restoration Program at Lurie Children’s. Finally, we’d like to acknowledge and thank the generous participant in this study.
Funding Information:
This work was supported by the Ann & Robert H. Lurie Children's Hospital of Chicago (Lurie Children's) Department of Surgery Faculty Practice Plan Grant (MML), the Warren & Eloise Batts endowment (MML), and a Burroughs Wellcome Fund Career Award at the Scientific Interface (#1014568, MML). This work was also supported by several research cores at Northwestern University including the Flow Cytometry Core Facility supported by Cancer Center Support Grant (NCI CA060553), the NUSeq Core Facility, and Dr. Kai Lee Yap at the Molecular Diagnostics Laboratory at Ann & Robert H. Lurie Children's Hospital of Chicago. Thank you to Shaina Goff, Courtney Finlayson, MD, Emilie Johnson, MD, MPH, and the rest of the clinical team at the Fertility & Hormone Preservation & Restoration Program at Lurie Children's. Finally, we'd like to acknowledge and thank the generous participant in this study.
Publisher Copyright:
© 2023 The Author(s)
PY - 2023/9
Y1 - 2023/9
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2023.103154
DO - 10.1016/j.scr.2023.103154
M3 - Article
C2 - 37413951
AN - SCOPUS:85164327504
SN - 1873-5061
VL - 71
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103154
ER -