Establishment Of Patient-Specific Induced Pluripotent Stem Cell Line Sdubmsi009-A From A Patient With X-Linked Lowe Syndrome

STEM CELL RESEARCH(2021)

引用 2|浏览6
暂无评分
摘要
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated. Here we report the establishment of SDUBMSi009-A, an induced pluripotent stem cell line derived from patient carrying splicing variant (c. 940-11G>A) of OCRL gene by non-integrative reprogramming technology. The iPSC line showed strong pluripotent characteristics, including expressing pluripotent markers and potential to differentiate into the three germ layers. In the meanwhile, the iPSC line kept a normal male karyotype.
更多
查看译文
关键词
syndrome,stem,patient-specific,x-linked
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要