Related Experiment Video
Updated: Nov 9, 2025

Integration Free Derivation of Human Induced Pluripotent Stem Cells Using Laminin 521 Matrix
Published on: July 7, 2017
Derivation of induced pluripotent stem cells from one child suffering Potocki-Lupski syndrome
Xia Wang1, Mingjing Zhang1, Ruiyun Guo2
1Child Health (Psychological Behavior) Department, Hebei Children's Hospital, Hebei Province 050017, China; Hebei Medical University-National University of Ireland Galway Stem Cell Research Center, Hebei Medical University, Hebei Province 050017, China; Hebei Research Center for Stem Cell Medical Translational Engineering, Hebei Province 050017, China.
Abstract:
Potocki-Lupski syndrome (PTLS; MIM 610883) is a neurodevelopmental disorder associated with a 3.7 Mb copy number variant (CNV) duplication, locating in chromosome 17p11.2. (Soler-Alfonso et al., 2011). Here, a human induced pluripotent stem cell (iPSC) line was derived from the peripheral blood mononuclear cells of a 5-year-old child suffering Potocki-Lupski syndrome. The generated iPSCs were integration-free, had the 17p11.2 3.7 Mb CNV duplication with no additional genomic alterations, a stable karyotype, expressed pluripotency stem cell markers and could differentiate towards the three germ layers in vitro. Patient's derived iPSCs are a valuable resource for in vitro modeling of 17p11.2 microduplication induced Potocki-Lupski syndrome.
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
10:52Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids
Published on: June 5, 2015
Related Concept Videos
Induced Pluripotent Stem Cells
Induced Pluripotent Stem Cells
Somatic...
EPS and iPS Cells in Disease Research
Stem Cell Culture
iPS Cell Differentiation