TY - JOUR
T1 - Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient
AU - Aarts, Cathelijn E. M.
AU - Varga, Eszter
AU - Webbers, Steven
AU - Geissler, Judy
AU - von Lindern, Marieke
AU - Kuijpers, Taco W.
AU - van den Akker, Emile
N1 - Funding Information: This work was supported by Sanquin Blood Supply Product and Process Development Cellular Products Fund ( PPOC 2089 ). Publisher Copyright: © 2021
PY - 2021/8/1
Y1 - 2021/8/1
N2 - Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study CHS pathophysiology and the role of LYST in different cell types.
AB - Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study CHS pathophysiology and the role of LYST in different cell types.
UR - http://www.scopus.com/inward/record.url?scp=85109465620&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.scr.2021.102442
DO - https://doi.org/10.1016/j.scr.2021.102442
M3 - Article
C2 - 34224985
SN - 1873-5061
VL - 55
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102442
ER -