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
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 gen...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121002889 |
| _version_ | 1818728599532863488 |
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| author | Grace B. Schwartz Hana Kubo Monica M. Laronda |
| author_facet | Grace B. Schwartz Hana Kubo Monica M. Laronda |
| author_sort | Grace B. Schwartz |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T22:32:33Z |
| format | Article |
| id | doaj.art-36f6ca2c92284ccb9672e81863c5b086 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-17T22:32:33Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-36f6ca2c92284ccb9672e81863c5b0862022-12-21T21:30:10ZengElsevierStem Cell Research1873-50612021-08-0155102441Generation 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) geneGrace B. Schwartz0Hana Kubo1Monica M. Laronda2Department 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, USADepartment 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, USADepartment 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.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.http://www.sciencedirect.com/science/article/pii/S1873506121002889 |
| spellingShingle | Grace B. Schwartz Hana Kubo Monica M. Laronda 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 Stem Cell Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121002889 |
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