TY - JOUR
T1 - Generation of two human induced pluripotent stem cell lines from a patient with complete androgen insensitivity syndrome with a hemizygous single nucleotide variant in the androgen receptor (AR) gene
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 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 the Northwestern University Sanger Sequencing Facility. 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 Hospital. Finally, we’d like to acknowledge and thank all the generous participants in this study.
Funding Information:
This work was supported by the Ann & Robert H. Lurie Children's Hospital of Chicago 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 the Northwestern University Sanger Sequencing Facility. 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 Hospital. Finally, we'd like to acknowledge and thank all the generous participants in this study.
Publisher Copyright:
© 2021 The Author(s)
PY - 2021/8
Y1 - 2021/8
N2 - Complete Androgen Insensitivity Syndrome (CAIS) is a difference of sex development (DSD) caused by loss of function of the androgen receptor (AR) gene. Patients typically identify as female and have a 46,XY karyotype. Two induced pluripotent stem cell lines (iPSCs), LCHi001-A and LCHi001-B, were generated from a participant with CAIS with AR mutation: c.2698A>T (p.Ile900Phe). Both lines presented typical morphology, expressed stem cell markers, differentiated into three germ layers, had a normal 46,XY karyotype, were mycoplasma-free, and carried the expected mutation in AR. These iPSC lines are an important resource for studying CAIS pathogenesis and possible treatment options.
AB - Complete Androgen Insensitivity Syndrome (CAIS) is a difference of sex development (DSD) caused by loss of function of the androgen receptor (AR) gene. Patients typically identify as female and have a 46,XY karyotype. Two induced pluripotent stem cell lines (iPSCs), LCHi001-A and LCHi001-B, were generated from a participant with CAIS with AR mutation: c.2698A>T (p.Ile900Phe). Both lines presented typical morphology, expressed stem cell markers, differentiated into three germ layers, had a normal 46,XY karyotype, were mycoplasma-free, and carried the expected mutation in AR. These iPSC lines are an important resource for studying CAIS pathogenesis and possible treatment options.
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U2 - 10.1016/j.scr.2021.102441
DO - 10.1016/j.scr.2021.102441
M3 - Article
C2 - 34233262
AN - SCOPUS:85108999277
SN - 1873-5061
VL - 55
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102441
ER -