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 | |
| Publication status | Published - Dec 2017 |
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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
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TY - JOUR
T1 - Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)
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
N1 - Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
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
VL - 25
SP - 128
EP - 131
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -