TY - JOUR
T1 - Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE
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 cell (iPSC) line was generated from erythroblasts (EBLs) derived from a patient diagnosed with severe congenital neutropenia, caused by mutations in ELANE (c.614delG). Transgene-free iPSC line was generated using Sendai virus reprogramming. The iPSC line showed normal karyotype, expressed pluripotency associated genes and was capable of in vitro spontaneous differentiation towards the three germ layers. The generated iPSC line can be used to study severe congenital neutropenia and the role of neutrophil elastase protein.
AB - Induced pluripotent stem cell (iPSC) line was generated from erythroblasts (EBLs) derived from a patient diagnosed with severe congenital neutropenia, caused by mutations in ELANE (c.614delG). Transgene-free iPSC line was generated using Sendai virus reprogramming. The iPSC line showed normal karyotype, expressed pluripotency associated genes and was capable of in vitro spontaneous differentiation towards the three germ layers. The generated iPSC line can be used to study severe congenital neutropenia and the role of neutrophil elastase protein.
UR - http://www.scopus.com/inward/record.url?scp=85109011379&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.scr.2021.102440
DO - https://doi.org/10.1016/j.scr.2021.102440
M3 - Article
C2 - 34229202
SN - 1873-5061
VL - 55
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102440
ER -