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
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
  • [31] Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene
    Saikia, Bhaskar Jyoti
    Bhardwaj, Juhi
    Saini, Arti
    Rajan, Roopa
    Binukumar, B. K.
    STEM CELL RESEARCH, 2024, 81
  • [32] Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutieres syndrome type 5 due to biallelic SAMDH1 mutations
    Haenchen, Vanessa
    Kretschmer, Stefanie
    Wolf, Christine
    Engel, Kerstin
    Khattak, Shahryar
    Neumann, Katrin
    Lee-Kirsch, Min Ae
    STEM CELL RESEARCH, 2022, 64
  • [33] Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene
    Jin, Yinshi
    Nan, Guangxian
    STEM CELL RESEARCH, 2023, 66
  • [34] Generation of human induced pluripotent stem cell (hiPSC) lines derived from three patients carrying the pathogenic CRYAB (A527G) mutation and one non-carrier family member
    Kelters, Ilse R.
    Verbueken, Devin
    Beekink, Tess
    Van Laake, Linda W.
    Sluijter, Joost P. G.
    Maas, Renee G. C.
    Buikema, Jan W.
    STEM CELL RESEARCH, 2024, 80
  • [35] Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations
    Tofoli, Fabiano A.
    Chien, Hsin Fen
    Barbosa, Egberto Reis
    Pereira, Lygia, V
    STEM CELL RESEARCH, 2019, 39
  • [36] Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004)
    Novak, Gabriela
    Finkbeiner, Steven
    Skibinski, Gaia
    Bernini, Michela
    Donato, Cristina
    Skupin, Alexander
    STEM CELL RESEARCH, 2022, 61
  • [37] Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene
    Krogulec, Ewelina
    Dobosz, Aneta M.
    Liszewska, Ewa
    Majchrowicz, Lena
    Dobrzyn, Agnieszka
    STEM CELL RESEARCH, 2024, 81
  • [38] Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members
    Mittal, Nishka
    Dave, Jaydev
    Harakalova, Magdalena
    van Tintelen, J. Peter
    Asselbergs, Folkert W.
    Doevendans, Pieter A.
    Costa, Kevin D.
    Turnbull, Irene C.
    Stillitano, Francesca
    STEM CELL RESEARCH, 2022, 60
  • [39] Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation
    Sbrini, Giulia
    Tomasoni, Zaira
    Cutri, Maria Rosa
    Pilotta, Alba
    Mingotti, Chiara
    Badolato, Raffaele
    La Via, Luca
    Barbon, Alessandro
    Bono, Federica
    Fiorentini, Chiara
    STEM CELL RESEARCH, 2024, 74
  • [40] Generation of pulmonary arterial hypertension patient-specific induced pluripotent stem cell lines from three unrelated patients with a heterozygous missense mutation in exon 12, a heterozygous in-frame deletion in exon 3 and a missense mutation in exon 11 of the BMPR2 gene
    Usman, Abdulai
    Haase, Alexandra
    Merkert, Sylvia
    Goehring, Gudrun
    Hansmann, Georg
    Gall, Henning
    Schermuly, Ralph
    Martin, Ulrich
    Olmer, Ruth
    STEM CELL RESEARCH, 2021, 55