源自一名患有复合 CHD8 基因突变的自闭症谱系障碍患者的 PBMCs 源性人诱导多能干细胞（iPSC）系 SDQLCHi051-A 的生成和特性描述。
Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations.
机构信息
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China; National Research Institute for Family Planning, Beijing 100081, China; Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China; National Human Genetic Resources Center, Beijing 102206, China.
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Ji'nan 250022, China.
出版信息
Stem Cell Res. 2023 Jun;69:103114. doi: 10.1016/j.scr.2023.103114. Epub 2023 May 5.
CHD8 mutation is a case of genetic related autism spectrum disorder(ASD), In our research, We describe here the derivation of the iPSC line SDQLCHi051-A from a patient with autism spectrum disorder (ASD) due to two heterozygote mutations (c.6728G > A and c.3876 T > G) in the CHD8 gene. The resulting iPSC line has typical iPSCs characteristics, including pluripotency and trilineage differentiation hallmarks.
CHD8 突变是一种与遗传相关的自闭症谱系障碍（ASD）病例。在我们的研究中，我们在这里描述了从一名患有自闭症谱系障碍（ASD）的患者中衍生出的 iPSC 系 SDQLCHi051-A，该患者由于 CHD8 基因中的两个杂合突变（c.6728G > A 和 c.3876T > G）。所得的 iPSC 系具有典型的 iPSC 特征，包括多能性和三系分化特征。
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