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 18 条

[1] 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 (vol 66, 102998, 2023)
Lattuada, Chiara
Santangelo, Serena
Peverelli, Silvia
McGoldrick, Philip
Rogaeva, Ekaterina
Zinman, Lorne
Haase, Georg
Geli, Vincent
Silani, Vincenzo
Robertson, Janice
Ratti, Antonia
Bossolasco, Patrizia
STEM CELL RESEARCH, 2023, 73
[2] Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene
Ruotolo, G.
D'Anzi, A.
Casamassa, A.
Mazzoni, M.
Ferrari, D.
Lombardi, I.
Carletti, R. M.
D'Asdia, C.
Torrente, I.
Frezza, K.
Lattante, S.
Sabatelli, M.
Pennuto, M.
Vescovi, A. L.
Rosati, J.
STEM CELL RESEARCH, 2024, 77
[3] 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
[4] Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene
Ruotolo, G.
D'Anzi, A.
Giovenale, A. M. G.
Giacometti, C.
Ferrari, D.
Vulcano, E.
D'Asdia, C.
Lattante, S.
Sabatelli, M.
Codazzi, F.
Consalez, G.
Marano, M.
Di Lazzaro, V.
Pennuto, M.
Vescovi, A.
Rosati, J.
STEM CELL RESEARCH, 2024, 81
[5] 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
[6] Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
Sandra Almeida
Gopinath Krishnan
Mia Rushe
Yuanzheng Gu
Mark W. Kankel
Fen-Biao Gao
Acta Neuropathologica, 2019, 138 : 1099 - 1101
[7] 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
[8] Generation of Non-Integrating iPS Cells and Motor Neurons from C9orf72 Repeat Expansion Amyotrophic Lateral Sclerosis Patients
Baloh, Robert
Sareen, Dhruv
Gire, Jacqueline
Ornelas, Loren
Grant, Sharday
Simpkinson, Megan
Bell, Shaughn
Sahabian, Anais
Harms, Matthew
Svendsen, Clive
NEUROLOGY, 2013, 80
[9] Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene
Lin, Han-Yi
Tsai, Li-Kai
Cheng, Yu-Che
Lu, Huai-En
Huang, Ching-Ying
Hsieh, Patrick C. H.
Lin, Chin-Hsien
STEM CELL RESEARCH, 2020, 44
[10] Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients
Jiang, Leanne
Tracey, Timothy J.
Gill, Melinder K.
Howe, Stephanie L.
Power, Dominique T.
Bharti, Vanda
McCombe, Pamela A.
Henderson, Robert D.
Steyn, Frederik J.
Ngo, Shyuan T.
STEM CELL RESEARCH, 2024, 78

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