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.
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.
Stem Cell Res. 2021 Aug;55:102441. doi: 10.1016/j.scr.2021.102441. Epub 2021 Jun 30.
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.
完全雄激素不敏感综合征（CAIS）是一种由雄激素受体（AR）基因突变导致的性发育差异（DSD）。患者通常被认定为女性，具有 46,XY 核型。两个诱导多能干细胞系（iPSCs），LCHi001-A 和 LCHi001-B，是从一名患有 AR 突变的 CAIS 患者中产生的：c.2698A>T（p.Ile900Phe）。这两条线都呈现出典型的形态，表达干细胞标记物，分化为三个胚层，具有正常的 46,XY 核型，无支原体污染，并携带 AR 中的预期突变。这些 iPSC 系是研究 CAIS 发病机制和可能治疗方法的重要资源。
