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Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology
Stem Cell Research
◽
10.1016/j.scr.2021.102530
◽
2021
◽
Vol 56
◽
pp. 102530
Author(s):
Ji-Zhen Lu
◽
Zhi-Bin Qiao
◽
Lu Zhang
◽
Hong-Xia Cao
◽
Zhi-Hui Bai
◽
...
Keyword(s):
Lmna Gene
◽
Ipsc Line
Download Full-text
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Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene
Stem Cell Research
◽
10.1016/j.scr.2020.101753
◽
2020
◽
Vol 44
◽
pp. 101753
Author(s):
Cheng Xiao
◽
Miao Yu
◽
Jieying Liu
◽
Han Wu
◽
Mingqun Deng
◽
...
Keyword(s):
Lmna Gene
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Ipsc Line
◽
Partial Lipodystrophy
◽
Familial Partial Lipodystrophy
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Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
Neuromuscular Disorders
◽
10.1016/j.nmd.2008.01.009
◽
2008
◽
Vol 18
(4)
◽
pp. 291-298
◽
Cited By ~ 19
Author(s):
Nicola Carboni
◽
Marco Mura
◽
Giovanni Marrosu
◽
Eleonora Cocco
◽
Mohammad Ahmad
◽
...
Keyword(s):
Gene Mutation
◽
Lmna Gene
◽
Mri Findings
◽
Muscle Mri
◽
Cardiac Phenotype
Download Full-text
Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene
Stem Cell Research
◽
10.1016/j.scr.2021.102188
◽
2021
◽
Vol 51
◽
pp. 102188
Author(s):
Xiaomeng Yang
◽
Ning Liu
◽
Hong Mu
◽
Yuqiang Lv
◽
Haiyan Zhang
◽
...
Keyword(s):
Hearing Loss
◽
Peripheral Blood Mononuclear Cell
◽
Mononuclear Cell
◽
Peripheral Blood
◽
Human Peripheral Blood
◽
Gjb2 Gene
◽
Compound Heterozygous
◽
Ipsc Line
◽
Peripheral Blood Mononuclear
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Establishment of MHHi001-A-5, a GCaMP6f and RedStar dual reporter human iPSC line for in vitro and in vivo characterization and in situ tracing of iPSC derivatives
Stem Cell Research
◽
10.1016/j.scr.2021.102206
◽
2021
◽
Vol 52
◽
pp. 102206
Author(s):
Alexandra Haase
◽
Tim Kohrn
◽
Veronika Fricke
◽
Maria Elena Ricci Signorini
◽
Merlin Witte
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...
Keyword(s):
Ipsc Line
◽
Dual Reporter
◽
In Vivo Characterization
◽
Human Ipsc
Download Full-text
Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient
Stem Cell Research
◽
10.1016/j.scr.2021.102443
◽
2021
◽
pp. 102443
Author(s):
Cathelijn E.M. Aarts
◽
Eszter Varga
◽
Steven Webbers
◽
Judy Geissler
◽
Marieke von Lindern
◽
...
Keyword(s):
Syndrome Patient
◽
Ipsc Line
◽
Gray Platelet Syndrome
◽
Human Ipsc
Download Full-text
Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity
Stem Cell Research
◽
10.1016/j.scr.2021.102432
◽
2021
◽
pp. 102432
Author(s):
Grazia Iannello
◽
Achchhe Patel
◽
Dario Sirabella
◽
Barbara Corneo
◽
Vidhu Thaker
Keyword(s):
Early Onset
◽
Ipsc Line
Download Full-text
Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation
Stem Cell Research
◽
10.1016/j.scr.2021.102217
◽
2021
◽
Vol 52
◽
pp. 102217
Author(s):
Yue Li
◽
Rui Dong
◽
Guangyu Wang
◽
Haiyan Zhang
◽
Xiaomeng Yang
◽
...
Keyword(s):
Homozygous Mutation
◽
Hypertrophic Osteoarthropathy
◽
Ipsc Line
◽
Primary Hypertrophic Osteoarthropathy
◽
Human Ipsc
Download Full-text
Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772T>C variant in FBN1
Stem Cell Research
◽
10.1016/j.scr.2021.102390
◽
2021
◽
pp. 102390
Author(s):
Suihan Wu
◽
Zhendong Zhang
◽
Lei Wang
◽
Jin Yu
Keyword(s):
Marfan Syndrome
◽
Ipsc Line
◽
Human Ipsc
Download Full-text
Generation of integration free human iPSC line SORMi002-A from neonatal foreskin fibroblasts
Stem Cell Research
◽
10.1016/j.scr.2019.101534
◽
2019
◽
Vol 40
◽
pp. 101534
Author(s):
Akshatha Shivaraj
◽
Shagufta Parveen
Keyword(s):
Ipsc Line
◽
Human Ipsc
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Corrigendum to “Reprogramming of human peripheral blood mononuclear cells from a patient suffering from recurrent hydatidiform mole to an iPSC line FAHZUi001-A carrying a homozygous p.Gln421Ter mutation in NLRP7 gene” [Stem Cell Res. 53 (2021) 102361]
Stem Cell Research
◽
10.1016/j.scr.2021.102479
◽
2021
◽
Vol 55
◽
pp. 102479
Author(s):
Tingyu Gong
◽
Hongkun Wang
◽
Bo Huang
◽
Hao Wang
◽
Peiwen Zhang
◽
...
Keyword(s):
Stem Cell
◽
Peripheral Blood Mononuclear Cells
◽
Peripheral Blood
◽
Mononuclear Cells
◽
Human Peripheral Blood
◽
Hydatidiform Mole
◽
Ipsc Line
◽
Peripheral Blood Mononuclear
◽
Blood Mononuclear Cells
Download Full-text
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