Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member

被引：1

作者：

Lattuada, Chiara ^{[1
,2
]}

Santangelo, Serena ^{[1
,2
,3
]}

Peverelli, Silvia ^{[1
,2
]}

McGoldrick, Philip ^{[4
]}

Rogaeva, Ekaterina ^{[4
]}

Zinman, Lorne ^{[5
]}

Haase, Georg ^{[6
,7
]}

Geli, Vincent ^{[8
]}

Silani, Vincenzo ^{[1
,2
,9
]}

Robertson, Janice ^{[4
]}

Ratti, Antonia ^{[1
,2
,3
]}

Bossolasco, Patrizia ^{[1
,2
]}

机构：

[1] IRCCS Ist Auxol Italian, Dept Neurol, Milan, Italy

[2] IRCCS Ist Auxol Italian, Lab Neurosci, Milan, Italy

[3] Univ Milan, Dept Med Biotechnol & Translat Med, Milan, Italy

[4] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[5] Sunnybrook Hlth Sci Ctr, Toronto, ON, Canada

[6] Inst Syst Neurosci, MPATHY Lab, U1106 INSERM, Marseille, France

[7] Aix Marseille Univ, Marseille, France

[8] Aix Marseille Univ, Inst Paoli Calmettes, Marseille Canc Res Ctr CRCM, Inserm U1068,CNRS UMR7258, Marseille, France

[9] Univ Milan, Dino Ferrari Ctr, Dept Pathophysiol & Transplantat, Milan, Italy

来源：

STEM CELL RESEARCH | 2023年 / 66卷

关键词：

HEXANUCLEOTIDE REPEAT;

D O I：

10.1016/j.scr.2022.102998

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower pathological limit. Repeat size variability has been observed intergenerationally and intraindividually in tissues from different organs and within the same tissue, suggesting instability of the pathological repeat expansion. In order to study this genomic instability, we established iPSCs from five members of the same family of which four carried a C9orf72 repeat expansion and one was wild-type.

引用

页数：5

共 3 条

[1] Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells
Selvaraj, Bhuvaneish T.
Livesey, Matthew R.
Chandran, Siddharthan
BRAIN PATHOLOGY, 2017, 27 (04) : 518 - 524
[2] Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
Almeida, Sandra
Krishnan, Gopinath
Rushe, Mia
Gu, Yuanzheng
Kankel, Mark W.
Gao, Fen-Biao
ACTA NEUROPATHOLOGICA, 2019, 138 (06) : 1099 - 1101
[3] Telomere Attrition in Induced Pluripotent Stem Cell-Derived Neurons From ALS/FTD-Related C9ORF72 Repeat Expansion Carriers
Robinson, Hayley
Ali, Sk Imran
Diaz-Hernandez, Martha Elena
Lopez-Gonzalez, Rodrigo
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2022, 10

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