Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

Cathelijn E. M. Aarts; Ellie Karampini; Tatjana Wüst; Steven Webbers; Eszter Varga; Judy Geissler; Jan Voorberg; Marieke von Lindern; Ruben Bierings; Emile van den Akker; Taco W. Kuijpers

doi:https://doi.org/10.1016/j.scr.2021.102444

Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

Cathelijn E. M. Aarts, Ellie Karampini, Tatjana Wüst, Steven Webbers, Eszter Varga, Judy Geissler, Jan Voorberg, Marieke von Lindern, Ruben Bierings, Emile van den Akker, Taco W. Kuijpers

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

3 Citations (Scopus)

Abstract

Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (c.177delA and c.1839-1842delTAGA). BOECs were reprogrammed with a hOKSM self-silencing polycistronic lentiviral vector, 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 HPS2 pathophysiology and the basic functions of AP3B1 protein in different cell types.

Original language	English
Article number	102444
Journal	Stem Cell Research
Volume	54
DOIs	https://doi.org/10.1016/j.scr.2021.102444
Publication status	Published - 1 Jul 2021

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Aarts, C. E. M., Karampini, E., Wüst, T., Webbers, S., Varga, E., Geissler, J., Voorberg, J., von Lindern, M., Bierings, R., van den Akker, E., & Kuijpers, T. W. (2021). Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1. Stem Cell Research, 54, Article 102444. https://doi.org/10.1016/j.scr.2021.102444

@article{0931be57f722475dbc192bb6fe18310f,

title = "Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1",

abstract = "Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (c.177delA and c.1839-1842delTAGA). BOECs were reprogrammed with a hOKSM self-silencing polycistronic lentiviral vector, 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 HPS2 pathophysiology and the basic functions of AP3B1 protein in different cell types.",

author = "Aarts, {Cathelijn E. M.} and Ellie Karampini and Tatjana W{\"u}st and Steven Webbers and Eszter Varga and Judy Geissler and Jan Voorberg and {von Lindern}, Marieke and Ruben Bierings and {van den Akker}, Emile and Kuijpers, {Taco W.}",

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 = jul,

day = "1",

doi = "https://doi.org/10.1016/j.scr.2021.102444",

language = "English",

volume = "54",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

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Aarts, CEM, Karampini, E, Wüst, T, Webbers, S, Varga, E, Geissler, J, Voorberg, J , von Lindern, M, Bierings, R, van den Akker, E & Kuijpers, TW 2021, 'Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1', Stem Cell Research, vol. 54, 102444. https://doi.org/10.1016/j.scr.2021.102444

Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1. / Aarts, Cathelijn E. M.; Karampini, Ellie; Wüst, Tatjana et al.
In: Stem Cell Research, Vol. 54, 102444, 01.07.2021.

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

TY - JOUR

T1 - Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

AU - Aarts, Cathelijn E. M.

AU - Karampini, Ellie

AU - Wüst, Tatjana

AU - Webbers, Steven

AU - Varga, Eszter

AU - Geissler, Judy

AU - Voorberg, Jan

AU - von Lindern, Marieke

AU - Bierings, Ruben

AU - van den Akker, Emile

AU - Kuijpers, Taco W.

PY - 2021/7/1

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N2 - Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (c.177delA and c.1839-1842delTAGA). BOECs were reprogrammed with a hOKSM self-silencing polycistronic lentiviral vector, 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 HPS2 pathophysiology and the basic functions of AP3B1 protein in different cell types.

AB - Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (c.177delA and c.1839-1842delTAGA). BOECs were reprogrammed with a hOKSM self-silencing polycistronic lentiviral vector, 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 HPS2 pathophysiology and the basic functions of AP3B1 protein in different cell types.

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DO - https://doi.org/10.1016/j.scr.2021.102444

M3 - Article

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SN - 1873-5061

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JO - Stem Cell Research

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M1 - 102444

ER -

Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

Abstract

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