Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

被引：3
|
作者：
Domingo-Prim, Judit [1 ,2 ]
Riera, Marina [1 ,2 ]
Abad-Morales, Victor [1 ,2 ]
Ruiz-Nogales, Sheila [1 ,2 ]
Corcostegui, Borja [1 ,3 ]
Pomares, Esther [1 ,2 ]
机构：
[1] Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain
[2] IMO, Dept Genet, Barcelona, Spain
[3] IMO, Dept Retina, Barcelona, Spain
来源：
STEM CELL RESEARCH | 2019年 / 40卷
关键词：
D O I：
10.1016/j.scr.2019.101570
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BEST1 mutation, expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.
引用
收藏
页数：4
相关论文
共 50 条
  • [31] An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
    Huang, Wei
    Xu, Miao
    Li, Rong
    Baskfield, Amanda
    Kouznetsova, Jennifer
    Beers, Jeanette
    Zou, Jizhong
    Liu, Chengyu
    Zheng, Wei
    STEM CELL RESEARCH, 2019, 37
  • [32] Generation and characterization of human-derived induced pluripotent stem cell line (IGIBi010-A) from a patient with neurodegenerative disease phenotype carrying mutation in SQSTM1/p62 gene
    Ahmad, Istaq
    Kapoor, Himanshi
    Srivastava, Achal Kumar
    Faruq, Mohammed
    STEM CELL RESEARCH, 2024, 80
  • [33] Establishment of induced pluripotent stem cell line (ZZUi009-A) from an Alzheimer's disease patient carrying a PSEN1 gene mutation
    Wang, Yanlin
    Jing, Na
    Su, Linlin
    Shi, Changhe
    Zhang, Pei
    Wang, Zhilei
    Sun, Huifang
    Yang, Jing
    Liu, Yutao
    Wen, Xuejun
    Zhang, Jin
    Zhang, Shoutao
    Xu, Yuming
    STEM CELL RESEARCH, 2018, 27 : 30 - 33
  • [34] Generation of human induced pluripotent stem cell line (BCRTi006-A) from a patient with focal segmental glomerulosclerosis disease
    Batool, Lilas
    Raab, Constanze
    Beez, Christien Madlen
    Hariharan, Krithika
    Kurtz, Andreas
    Gollasch, Maik
    Rossbach, Bella
    STEM CELL RESEARCH, 2023, 69
  • [35] Generation and characterization of a human induced pluripotent stem cell line (XWHNi001-A) derived from an Alzheimer's disease patient with mutation in the APP gene
    Wei, Cuibai
    Lu, Xinliang
    Zou, Qi
    Gong, Shuting
    Chen, Yufei
    Lyu, Jihui
    Jia, Jianping
    STEM CELL RESEARCH, 2022, 60
  • [36] Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation
    Cui, Yazhou
    Wang, Jing
    Zhang, Genglin
    Luan, Jing
    Han, Jinxiang
    STEM CELL RESEARCH, 2021, 50
  • [37] Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene
    Martins, Soraia
    Hacheney, Inken
    Teichweyde, Nadine
    Hildebrandt, Barbara
    Krutmann, Jean
    Rossi, Andrea
    STEM CELL RESEARCH, 2021, 55
  • [38] Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with NEDSDV carrying a heterozygote mutation in the CTNNB1 gene
    Yang, Yanan
    Liu, Chen
    Liu, Ning
    Yang, Xiaomeng
    Liu, Yi
    Gai, Zhongtao
    STEM CELL RESEARCH, 2024, 76
  • [39] 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
    Wang, Bin
    Liu, Chen
    Zhang, Haiyan
    Gai, Zhongtao
    Liu, Yi
    STEM CELL RESEARCH, 2021, 50
  • [40] Generation of Alzheimer's Disease Model Derived from Induced Pluripotent Stem Cells with APP Gene Mutation
    Kim, Yena
    Yun, Binna
    Ye, Byoung Seok
    Kim, Bo-Young
    BIOMEDICINES, 2024, 12 (06)
12345