Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

Compound Heterozygous ◽

Stem Cell Line ◽

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 ◽

Stem Cell Line ◽

Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101742 ◽

2020 ◽

Vol 44 ◽

pp. 101742

Author(s):

Yalan Zhou ◽

Chengcheng Ding ◽

Shutao Xia ◽

Yutong Jing ◽

Shengru Mao ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

Stem Cell Research ◽

10.1016/j.scr.2019.101468 ◽

2019 ◽

Vol 38 ◽

pp. 101468

Author(s):

Judit Domingo-Prim ◽

Marina Riera ◽

Anniken Burés-Jelstrup ◽

Borja Corcostegui ◽

Esther Pomares

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Dominant Mutation ◽

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Stem Cell Research ◽

10.1016/j.scr.2021.102403 ◽

2021 ◽

pp. 102403

Author(s):

Sang Yoon Moon ◽

Dan Zhang ◽

Shang-Chih Chen ◽

Tina M. Lamey ◽

Jennifer A. Thompson ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Lines ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Stem Cell Lines ◽

Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient

Stem Cell Research ◽

10.1016/j.scr.2020.102041 ◽

2020 ◽

Vol 49 ◽

pp. 102041

Author(s):

Yalan Zhou ◽

Zekai Cui ◽

Yutong Jing ◽

Shengru Mao ◽

Donglong Chen ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101964 ◽

2020 ◽

Vol 48 ◽

pp. 101964

Author(s):

Glen Lester Sequiera ◽

Cheryl Rockman-Greenberg ◽

Sanjiv Dhingra

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Leigh Syndrome ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1

Stem Cell Research ◽

10.1016/j.scr.2019.101505 ◽

2019 ◽

Vol 39 ◽

pp. 101505 ◽

Cited By ~ 1

Author(s):

Haiyan Zhang ◽

Yanyan Ma ◽

Fengling Song ◽

Xiaomeng Yang ◽

Yue Li ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Syndrome Type ◽

Stem Cell Line ◽

Type Iii ◽

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

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 ◽