Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p. R450C) in the RHOT1 gene encoding Miro1

被引：0

作者：

Chemla, Axel ^{[1
]}

Arena, Giuseppe ^{[1
,11
]}

Onal, Gizem ^{[2
,3
,4
]}

Walter, Jonas ^{[5
,12
]}

Berenguer-Escuder, Clara ^{[1
]}

Grossmann, Dajana ^{[1
,6
]}

Grunewald, Anne ^{[7
,8
]}

Schwamborn, Jens C.

Kruger, Rejko ^{[1
,9
,10
,11
]}

机构：

[1] Univ Luxembourg, Luxembourg Ctr Syst Biomed LCSB, Translat Neurosci, Esch Sur Alzette, Luxembourg

[2] Univ Oxford, Dept Physiol Anat & Genet, Oxford, England

[3] Univ Oxford, Kavli Inst Nanosci Discovery, Oxford, England

[4] Balikesir Univ, Fac Med, Dept Med Biol, Balikesir, Turkiye

[5] Univ Luxembourg, Luxembourg Ctr Syst Biomed LCSB, Dev & Cellular Biol, Belvaux, Luxembourg

[6] Univ Rostock, Univ Med Ctr Rostock, Dept Neurol, Translat Neurodegenerat Sect Albrecht Kossel, Rostock, Germany

[7] Univ Luxembourg, Luxembourg Ctr Syst Biomed LCSB, Mol & Funct Neurobiol, Luxembourg, Luxembourg

[8] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[9] Ctr Hospitalier Luxembourg, Luxembourg, Luxembourg

[10] Luxembourg Inst Hlth LIH, Transversal Translat Med, Luxembourg, Luxembourg

[11] Univ Luxembourg, Luxembourg Ctr Syst Biomed LCSB, Translat Neurosci Team, Campus Belval,6 Ave Swing, L-4367 Esch Sur Alzette, Luxembourg

[12] Univ Copenhagen, Novo Nord Fdn Ctr Prot Res, Fac Hlth & Med Sci, Dept Prote, Blegdamsvej 3B, DK-2200 Copenhagen, Denmark

来源：

STEM CELL RESEARCH | 2023年 / 71卷

关键词：

D O I：

10.1016/j.scr.2023.103145

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Fibroblasts from two Parkinson's disease (PD) patients carrying either the heterozygous mutation c.815G > A (Miro1 p.R272Q) or c.1348C > T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).

引用

页数：6

共 24 条

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Jimei Su
Xueying Huang
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STEM CELL RESEARCH, 2023, 73
[23] Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant
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HUMAN CELL, 2024, 37 (03) : 832 - 839
[24] Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene
Pongpamorn, Praeploy
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STEM CELL RESEARCH, 2020, 43

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