An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Disease Type ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research ◽

10.1016/j.scr.2020.102146 ◽

2021 ◽

Vol 50 ◽

pp. 102146

Author(s):

Bin Wang ◽

Chen Liu ◽

Haiyan Zhang ◽

Zhongtao Gai ◽

Yi Liu

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

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

Stem Cell Research ◽

10.1016/j.scr.2019.101411 ◽

2019 ◽

Vol 36 ◽

pp. 101411

Author(s):

Jiake Xu ◽

Yong Fu ◽

Weichun Xia ◽

Jing He ◽

Yan Zou ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Induced Pluripotent ◽

Tooth Disease

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Stem Cell Research ◽

10.1016/j.scr.2019.101408 ◽

2019 ◽

Vol 36 ◽

pp. 101408 ◽

Cited By ~ 1

Author(s):

Rong Li ◽

Amanda Baskfield ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Mucopolysaccharidosis Type ◽

Stem Cell Line ◽

Mps Iva ◽

Induced Pluripotent ◽

Mucopolysaccharidosis Type Iva

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 an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102579 ◽

2021 ◽

pp. 102579

Author(s):

Theresa Leonie Fluhr ◽

Mansoureh Tabatabaeifar ◽

Hanna Syring ◽

Gudrun Göhring ◽

Franz Schaefer ◽

...

Keyword(s):

Stem Cell ◽

Kidney Disease ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Polycystic Kidney ◽

Stem Cell Line ◽

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 ◽

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)

Stem Cell Research ◽

10.1016/j.scr.2018.11.015 ◽

2019 ◽

Vol 34 ◽

pp. 101354 ◽

Cited By ~ 2

Author(s):

Ying-qian Lu ◽

En-lin Dong ◽

Wei-qi Yang ◽

Lu-lu Lai ◽

Xiao-hong Lin ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Hereditary Spastic Paraplegia ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Spastic Paraplegia ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102632 ◽

2021 ◽

pp. 102632

Author(s):

Carmen Hernández-Ainsa ◽

Andrés Nascimento ◽

Cristina Jou ◽

Rafael Artuch ◽

Julio Montoya ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Heterozygous Patient ◽

Induced pluripotent stem cell line ICGi036-A generated by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia caused due to compound heterozygous p.Ser177Leu / p.Cys352Arg mutations in LDLR

Stem Cell Research ◽

10.1016/j.scr.2022.102653 ◽

2022 ◽

pp. 102653

Author(s):

Irina S. Zakharova ◽

Alexander I. Shevchenko ◽

Narek A. Tmoyan ◽

Eugeny A. Elisaphenko ◽

Ekaterina S. Zubkova ◽

...

Keyword(s):

Stem Cell ◽

Peripheral Blood Mononuclear Cells ◽

Pluripotent Stem Cell ◽

Mononuclear Cells ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Peripheral Blood Mononuclear ◽

Blood Mononuclear Cells ◽

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Stem Cell Research ◽

10.1016/j.scr.2018.08.001 ◽

2018 ◽

Vol 31 ◽

pp. 147-151 ◽

Cited By ~ 3

Author(s):

Xiao Zhang ◽

Dan Zhang ◽

Shang-Chih Chen ◽

Tina Lamey ◽

Jennifer A. Thompson ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Retinitis Pigmentosa Patient ◽

Stem Cell Line ◽