Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)

Gabriella Spaltro; Vera Vigorelli; Federica Casalnuovo; Pietro Spinelli; Elisa Castiglioni; Davide Rovina; Stefania Paganini; Marina Di Segni; Patrizia Nigro; Cristina Gervasini; Giulio Pompilio; Aoife Gowran

doi:10.1016/j.scr.2017.10.018

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)

Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran

Centro Cardiologico Monzino

Research output: Contribution to journal › Article

Abstract

Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

Original language	English
Pages (from-to)	128-131
Number of pages	4
Journal	Stem Cell Research
Volume	25
DOIs	https://doi.org/10.1016/j.scr.2017.10.018
Publication status	Published - Dec 2017

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Journal Article

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Spaltro, G., Vigorelli, V., Casalnuovo, F., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Nigro, P., Gervasini, C., Pompilio, G., & Gowran, A. (2017). Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50). Stem Cell Research, 25, 128-131. https://doi.org/10.1016/j.scr.2017.10.018

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50). / Spaltro, Gabriella; Vigorelli, Vera; Casalnuovo, Federica; Spinelli, Pietro; Castiglioni, Elisa ; Rovina, Davide; Paganini, Stefania; Di Segni, Marina; Nigro, Patrizia; Gervasini, Cristina; Pompilio, Giulio ; Gowran, Aoife.

In: Stem Cell Research, Vol. 25, 12.2017, p. 128-131.

Research output: Contribution to journal › Article

Spaltro, G, Vigorelli, V, Casalnuovo, F, Spinelli, P, Castiglioni, E , Rovina, D, Paganini, S, Di Segni, M, Nigro, P, Gervasini, C, Pompilio, G & Gowran, A 2017, 'Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)', Stem Cell Research, vol. 25, pp. 128-131. https://doi.org/10.1016/j.scr.2017.10.018

Spaltro, Gabriella ; Vigorelli, Vera ; Casalnuovo, Federica ; Spinelli, Pietro ; Castiglioni, Elisa ; Rovina, Davide ; Paganini, Stefania ; Di Segni, Marina ; Nigro, Patrizia ; Gervasini, Cristina ; Pompilio, Giulio ; Gowran, Aoife. / Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50). In: Stem Cell Research. 2017 ; Vol. 25. pp. 128-131.

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title = "Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)",

abstract = "Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).",

keywords = "Journal Article",

author = "Gabriella Spaltro and Vera Vigorelli and Federica Casalnuovo and Pietro Spinelli and Elisa Castiglioni and Davide Rovina and Stefania Paganini and {Di Segni}, Marina and Patrizia Nigro and Cristina Gervasini and Giulio Pompilio and Aoife Gowran",

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AU - Spaltro, Gabriella

AU - Vigorelli, Vera

AU - Casalnuovo, Federica

AU - Spinelli, Pietro

AU - Castiglioni, Elisa

AU - Rovina, Davide

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Nigro, Patrizia

AU - Gervasini, Cristina

AU - Pompilio, Giulio

AU - Gowran, Aoife

PY - 2017/12

Y1 - 2017/12

N2 - Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

AB - Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

KW - Journal Article

U2 - 10.1016/j.scr.2017.10.018

DO - 10.1016/j.scr.2017.10.018

M3 - Article

C2 - 29127875

VL - 25

SP - 128

EP - 131

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

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10.1016/j.scr.2017.10.018