Establishment Of Patient-Specific Induced Pluripotent Stem Cell Line Sdubmsi009-A From A Patient With X-Linked Lowe Syndrome
STEM CELL RESEARCH(2021)
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.
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关键词
syndrome,stem,patient-specific,x-linked
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