Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A)

被引：7
|
作者：
Kumar, Deepak [1 ,2 ]
Hussain, Ashaq [3 ]
Srivastava, Achal K. [2 ]
Mukerji, Mitali [1 ]
Mukherjee, Odity [4 ]
Faruq, Mohammed [1 ]
机构：
[1] IGIB, CSIR, Genom & Mol Med, Mall Rd, Delhi 110007, India
[2] All India Inst Med Sci, Neurosci Ctr, Dept Neurol, New Delhi 110029, India
[3] Hamdard Univ, Jamia Hamdard, New Delhi, India
[4] Inst Stem Cell Biol & Regenerat Med InStem, Bangalore, Karnataka, India
来源：
STEM CELL RESEARCH | 2018年 / 31卷
关键词：
D O I：
10.1016/j.scr.2018.08.008
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and fill date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease modelling has become the next generation tool for studying various human pathologies. In the present study we established three SCA12 patient specific iPSC lines. All the generated lines have shown pluripotency markers, normal karyotype, in-vitro three germ layers differentiation potential, vector clearance, SCA12 mutation, parental genomic identity and contamination free culture.
引用
收藏
页码：216 / 221
页数：6
相关论文
共 40 条
  • [21] Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations
    Bchetnia, Mbarka
    Martineau, Laurie
    Racine, Veronique
    Powell, Julie
    McCuaig, Catherine
    Morin, Charles
    Duperee, Audrey
    Gros-Louis, Francois
    Laprise, Catherine
    STEM CELL RESEARCH, 2022, 60
  • [22] Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
    Bouwman, Linde F.
    Joosen, Milou E. M.
    Buijsen, Ronald A. M.
    van der Graaf, Linda M.
    Pepers, Barry A.
    Voesenek, Bas J. B.
    Brosens, Erwin
    van de Warrenburg, Bart P. C.
    van Roon-Mom, Willeke M. C.
    STEM CELL RESEARCH, 2024, 78
  • [23] Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C
    Valetdinova, K. R.
    Maretina, M. A.
    Vyatkin, Y. V.
    Perepelkina, M. P.
    Egorova, A. A.
    Baranov, V. S.
    Kiselev, A., V
    Gershovich, P. M.
    Zakian, S. M.
    STEM CELL RESEARCH, 2020, 48
  • [24] Generation of human induced pluripotent stem cell lines SPPHIi003-A and SPPHIi004-A from two patients with sporadic Alzheimer?s disease in Southwestern China
    Chen, Li
    Zhang, Ji
    Yang, Xiangyu
    Wang, Su
    Ye, Fang
    STEM CELL RESEARCH, 2022, 64
  • [25] Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
    Christensen, Chloe
    Heckman, Perla
    Rha, Allisandra
    Kan, Shih-Hsin
    Harb, Jerry
    Wang, Raymond
    STEM CELL RESEARCH, 2023, 69
  • [26] Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line (CSUXHi005-A) from human urine epithelial cells
    He, Lang
    Han, Xiaobo
    Zhao, Huifang
    Li, Shuai
    Chen, Zhao
    Wang, Chunrong
    Wang, Shang
    Peng, Linliu
    Deng, Weiyue
    Li, Zhiyuan
    Tang, Beisha
    Jiang, Hong
    STEM CELL RESEARCH, 2021, 53
  • [27] Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene
    Jahng, James W. S.
    Black, Katelyn E.
    Liu, Lichao
    Bae, Hye Ryeong
    Perez, Marco
    Ashley, Euan A.
    Sallam, Karim
    Wu, Joseph C.
    STEM CELL RESEARCH, 2021, 53
  • [28] Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients
    Martin-Inaraja, Myriam
    Romayor, Irene
    de Camara, Andrea Saez
    Herrera, Lara
    Palacios, Ainhoa
    Villaverde, Maria
    Santos, Silvia
    Vesga, Miguel Angel
    Barrena, Beatriz
    Aransay, Ana Maria
    Anguita, Juan
    Solorzano, Estibaliz
    Prieto, Maria Begona
    Matorras, Roberto
    Eguizabal, Cristina
    STEM CELL RESEARCH, 2025, 83
  • [29] Establishment of induced pluripotent stem cell lines derived from Parkinson's disease Mexican patients: A sporadic (UNAMi002-A) and a familial (UNAMi003-A) case carrying a mutation in PINK1
    Flores-Ponce, Xochitl
    Lopez-Ornelas, Adolfo
    Escobedo-Avila, Itzel
    Rodriguez-Violante, Mayela
    de Montellano, David Davila-Ortiz
    Cervantes-Arriaga, Amin
    Monroy-Jaramillo, Nancy
    Campos-Romo, Aurelio
    Velasco, Ivan
    STEM CELL RESEARCH, 2024, 76
  • [30] GENERATION OF THREE ISOGENIC INDUCED PLURIPOTENT STEM CELL LINES DERIVED FROM PATIENTS WITH HUTCHINSON-GILFORD PROGERIA SYNDROME USING ADENINE BASE EDITING
    Asensi, K. D.
    Campos, D. P.
    Rodrigues, K. P.
    Castro, G. F.
    Figueiredo, A. F.
    Pereira, J. P.
    Kasai-Brunswick, T. H.
    Carvalho, A. C.
    CYTOTHERAPY, 2023, 25 (06) : S279 - S279
1234