An integration-free iPSC line SDQLCHi065-A from a patient with down syndrome, possessing a 47, XY,+21, inv(9)(p12q21),16qh  + karyotype

Stem Cell Res. 2024 Feb 17;76:103351. doi: 10.1016/j.scr.2024.103351. Online ahead of print.ABSTRACTDown syndrome, a chromosomal aneuploidy genetic disorder, is primarily caused by trisomy 21 in all cells of a patient's body. In fewer cases, it can be attributed to a trisomy 21 chimera or trisomy 21 in specific cells within the body. We established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of an 8-day-old boy with Down syndrome possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype. The iPSCs exhibited consistent karyotype, expressed markers indicative of pluripotency, lacked genomic integration of episomal plasmids, and demonstrated in vitro differentiation potential across three germ layers.PMID:38377649 | DOI:10.1016/j.scr.2024.103351
Source: Cell Research - Category: Cytology Authors: Source Type: research