Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2

Disease Type ◽

Stem Cell Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (S27.002)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.s27.002 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. S27.002-S27.002

Author(s):

M. Saporta ◽

D. Volfson ◽

A. Adebola ◽

M. Shy ◽

R. Liem ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (IN8-2.001)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.in8-2.001 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. IN8-2.001-IN8-2.001

Author(s):

M. Saporta ◽

D. Volfson ◽

A. Adebola ◽

M. Shy ◽

R. Liem ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (IN7-2.001)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.in7-2.001 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. IN7-2.001-IN7-2.001

Author(s):

M. Saporta ◽

D. Volfson ◽

A. Adebola ◽

M. Shy ◽

R. Liem ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101461 ◽

2019 ◽

Vol 38 ◽

pp. 101461 ◽

Cited By ~ 4

Author(s):

Amanda Baskfield ◽

Rong Li ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

Pick Disease

Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)

Stem Cell Research ◽

10.1016/j.scr.2017.08.002 ◽

2017 ◽

Vol 24 ◽

pp. 5-7 ◽

Cited By ~ 1

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)

Stem Cell Research ◽

10.1016/j.scr.2017.03.006 ◽

2017 ◽

Vol 21 ◽

pp. 9-12 ◽

Cited By ~ 1

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a

Stem Cell Research ◽

10.1016/j.scr.2020.102095 ◽

2020 ◽

Vol 49 ◽

pp. 102095

Author(s):

Yukimi Katagami ◽

Takayuki Kondo ◽

Mika Suga ◽

Yuichiro Yada ◽

Keiko Imamura ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Stem Cell Line ◽

Induced Pluripotent

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101595 ◽

2019 ◽

Vol 41 ◽

pp. 101595 ◽

Cited By ~ 2

Author(s):

Ana Joana Duarte ◽

Diogo Ribeiro ◽

Renato Santos ◽

Luciana Moreira ◽

José Bragança ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gaucher Disease ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygote ◽

Stem Cell Line ◽

Induced Pluripotent ◽

Type 3

Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa

Stem Cell Research ◽

10.1016/j.scr.2021.102584 ◽

2021 ◽

pp. 102584

Author(s):

Yongbo Shin ◽

Seon Ju Mun ◽

Jaeseo Lee ◽

Kyung-Sook Chung ◽

Misuk Kim ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Stem Cell Line ◽

Induced Pluripotent

Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102228 ◽

2021 ◽

Vol 52 ◽

pp. 102228

Author(s):

Weiping Ji ◽

Dexuan Wang ◽

Congde Chen ◽

Huihui Chen ◽

Yinjuan Ding ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Bartter Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Slc12a1 Gene ◽

Induced Pluripotent