Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A

Maryam Alowaysi; Mohammad Al-Shehri; Amani Badkok; Hanouf Attas; Doaa Aboalola; Moayad Baadhaim; Hajar Alzahrani; Mustafa Daghestani; Asima Zia; Khalid Al-Ghamdi; Asayil Al-Ghamdi; Samer Zakri; Sihem Aouabdi; Jesper Tegner; Khaled Alsayegh

doi:10.1007/s13577-023-01016-z

Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A

Maryam Alowaysi, Mohammad Al-Shehri, Amani Badkok, Hanouf Attas, Doaa Aboalola, Moayad Baadhaim, Hajar Alzahrani, Mustafa Daghestani, Asima Zia, Khalid Al-Ghamdi, Asayil Al-Ghamdi, Samer Zakri, Sihem Aouabdi, Jesper Tegner, Khaled Alsayegh^*

^*Corresponding author for this work

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

Abstract

The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.

Original language	English (US)
Pages (from-to)	502-510
Number of pages	9
Journal	Human Cell
Volume	37
Issue number	2
DOIs	https://doi.org/10.1007/s13577-023-01016-z
State	Accepted/In press - 2023

Bibliographical note

Publisher Copyright:
© 2023, The Author(s).

Keywords

CPLX1 variant
Dravet syndrome
Epileptic encephalopathy
iPSC
SCN9A variant

ASJC Scopus subject areas

Cell Biology
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s13577-023-01016-z

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Alowaysi, M., Al-Shehri, M., Badkok, A., Attas, H., Aboalola, D., Baadhaim, M., Alzahrani, H., Daghestani, M., Zia, A., Al-Ghamdi, K., Al-Ghamdi, A., Zakri, S., Aouabdi, S., Tegner, J., & Alsayegh, K. (Accepted/In press). Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A. Human Cell, 37(2), 502-510. https://doi.org/10.1007/s13577-023-01016-z

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title = "Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A",

abstract = "The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.",

keywords = "CPLX1 variant, Dravet syndrome, Epileptic encephalopathy, iPSC, SCN9A variant",

author = "Maryam Alowaysi and Mohammad Al-Shehri and Amani Badkok and Hanouf Attas and Doaa Aboalola and Moayad Baadhaim and Hajar Alzahrani and Mustafa Daghestani and Asima Zia and Khalid Al-Ghamdi and Asayil Al-Ghamdi and Samer Zakri and Sihem Aouabdi and Jesper Tegner and Khaled Alsayegh",

note = "Publisher Copyright: {\textcopyright} 2023, The Author(s).",

year = "2023",

doi = "10.1007/s13577-023-01016-z",

language = "English (US)",

volume = "37",

pages = "502--510",

journal = "Human Cell",

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Alowaysi, M, Al-Shehri, M, Badkok, A, Attas, H, Aboalola, D, Baadhaim, M, Alzahrani, H, Daghestani, M, Zia, A, Al-Ghamdi, K, Al-Ghamdi, A, Zakri, S, Aouabdi, S, Tegner, J & Alsayegh, K 2023, 'Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A', Human Cell, vol. 37, no. 2, pp. 502-510. https://doi.org/10.1007/s13577-023-01016-z

TY - JOUR

T1 - Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A

AU - Alowaysi, Maryam

AU - Al-Shehri, Mohammad

AU - Badkok, Amani

AU - Attas, Hanouf

AU - Aboalola, Doaa

AU - Baadhaim, Moayad

AU - Alzahrani, Hajar

AU - Daghestani, Mustafa

AU - Zia, Asima

AU - Al-Ghamdi, Khalid

AU - Al-Ghamdi, Asayil

AU - Zakri, Samer

AU - Aouabdi, Sihem

AU - Tegner, Jesper

AU - Alsayegh, Khaled

PY - 2023

Y1 - 2023

N2 - The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.

AB - The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.

KW - CPLX1 variant

KW - Dravet syndrome

KW - Epileptic encephalopathy

KW - iPSC

KW - SCN9A variant

UR - http://www.scopus.com/inward/record.url?scp=85180253473&partnerID=8YFLogxK

U2 - 10.1007/s13577-023-01016-z

DO - 10.1007/s13577-023-01016-z

M3 - Article

C2 - 38110787

AN - SCOPUS:85180253473

SN - 0914-7470

VL - 37

SP - 502

EP - 510

JO - Human Cell

JF - Human Cell

IS - 2

ER -

Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

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