Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient

Cathelijn E. M. Aarts; Eszter Varga; Steven Webbers; Judy Geissler; Marieke von Lindern; Taco W. Kuijpers; Emile van den Akker

doi:https://doi.org/10.1016/j.scr.2021.102443

Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient

Cathelijn E. M. Aarts, Eszter Varga, Steven Webbers, Judy Geissler, Marieke von Lindern, Taco W. Kuijpers, Emile van den Akker

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Abstract

Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. 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 GPS pathophysiology and the basic functions of NBEAL2 protein in different cell types.

Original language	English
Article number	102443
Journal	Stem Cell Research
Volume	55
DOIs	https://doi.org/10.1016/j.scr.2021.102443
Publication status	Published - 1 Aug 2021

Access to Document

https://doi.org/10.1016/j.scr.2021.102443

Cite this

@article{39b40b6ffa9f4716a7b20257a1e45241,

title = "Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient",

abstract = "Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. 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 GPS pathophysiology and the basic functions of NBEAL2 protein in different cell types.",

author = "Aarts, {Cathelijn E. M.} and Eszter Varga and Steven Webbers and Judy Geissler and {von Lindern}, Marieke and Kuijpers, {Taco W.} and {van den Akker}, Emile",

note = "Funding Information: This work was supported by Sanquin Blood Supply Product and Process Development Cellular Products Fund (PPOC 2089 ). Publisher Copyright: {\textcopyright} 2021",

year = "2021",

month = aug,

day = "1",

doi = "https://doi.org/10.1016/j.scr.2021.102443",

language = "English",

volume = "55",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet 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

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 Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. 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 GPS pathophysiology and the basic functions of NBEAL2 protein in different cell types.

AB - Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Gray Platelet Syndrome (GPS), caused by compound heterozygous NBEAL2 mutations (c.6568delT and c.7937T>C). GPS is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. 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 GPS pathophysiology and the basic functions of NBEAL2 protein in different cell types.

UR - http://www.scopus.com/inward/record.url?scp=85109096789&partnerID=8YFLogxK

U2 - https://doi.org/10.1016/j.scr.2021.102443

DO - https://doi.org/10.1016/j.scr.2021.102443

M3 - Article

C2 - 34237592

SN - 1873-5061

VL - 55

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102443

ER -

Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient

Abstract

Access to Document

Other files and links

Cite this