An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene

被引：2
|
作者：
Mitchell, Matthew W. [1 ]
Grandizio, Christine [1 ]
Turan, Nahid [1 ]
Requesens, Deborah V. [1 ,2 ]
机构：
[1] Coriell Inst Med Res, Camden, NJ 08103 USA
[2] Univ Penn, Orphan Dis Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA
来源：
STEM CELL RESEARCH | 2022年 / 63卷
关键词：
D O I：
10.1016/j.scr.2022.102833
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Vici syndrome is a rare, congenital disorder that affects multiple systems and is caused by mutations in the EPG5 gene that encodes for ectopic P-granules autophagy protein 5 (EPG5). The induced pluripotent stem cell (iPSC) line described here was generated from a dermal fibroblast cell line from an 8-year-old male donor with a homozygous recessive c.1007A > G (p.Q336R) mutation in the EPG5 gene. This iPSC model of Vici syndrome provides a unique and valuable resource for investigators to study the pathology of EPG5 mutations and the aetiology of the disease as well as develop therapeutic treatments for those with Vici syndrome.
引用
收藏
页数：5
相关论文
共 49 条
  • [41] Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant
    Chen, Die
    Su, Jimei
    Huang, Xueying
    Chen, Hongyu
    Jiang, Tiejia
    Zhi, Chunchun
    Zhou, Zuolin
    Zhang, Bing
    Yu, Lan
    Jiang, Xiaoling
    HUMAN CELL, 2024, 37 (03) : 832 - 839
  • [42] Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene
    Hoepperger, Sabrina
    Spathopoulou, Angeliki
    Mayer-Suess, Lukas
    Suarez-Cubero, Marta
    Sillaber, Katharina
    Spreiz, Ana
    Kiechl, Stefan
    Edenhofer, Frank
    Fellner, Lisa
    STEM CELL RESEARCH, 2024, 75
  • [43] Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene
    Drick, Nora
    Dahlmann, Julia
    Sahabian, Anais
    Haase, Alexandra
    Goehring, Gudrun
    Lachmann, Nico
    Ringshausen, Felix C.
    Welte, Tobias
    Martin, Ulrich
    Olmer, Ruth
    STEM CELL RESEARCH, 2020, 46
  • [44] Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene
    Hu, Lidan
    Wang, Gang
    Wu, Hangdi
    Fu, Haidong
    Wang, Yan
    Yu, Fan
    Liu, Zhihong
    Mao, Jianhua
    STEM CELL RESEARCH, 2021, 56
  • [45] Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718*(c.2152C > T) in the CLCN5 ge ne
    Chen, Huihui
    Ding, Yinjuan
    Zhou, Weizhong
    Li, Jiajia
    Qian, Weite
    Zhang, Zhe
    Li, Chao
    Tong, Hongfei
    Rong, Xing
    Chu, Maoping
    Chen, Congde
    Wang, Dexuan
    Guo, Xiaoling
    STEM CELL RESEARCH, 2021, 51
  • [46] Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
    Ababneh, Nidaa A.
    Barham, Raghda
    Al-Kurdi, Ban
    Al Hadidi, Sabal
    Ali, Dema
    Abdulelah, Ahmed A.
    Madadha, Adan
    Masri, Amira
    Awidi, Abdalla
    STEM CELL RESEARCH, 2024, 81
  • [47] Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p. R450C) in the RHOT1 gene encoding Miro1
    Chemla, Axel
    Arena, Giuseppe
    Onal, Gizem
    Walter, Jonas
    Berenguer-Escuder, Clara
    Grossmann, Dajana
    Grunewald, Anne
    Schwamborn, Jens C.
    Kruger, Rejko
    STEM CELL RESEARCH, 2023, 71
  • [48] Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C > T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5
    Klein, Thomas
    Henkel, Lisa
    Klug, Katharina
    Kwok, Chee Keong
    Klopocki, Eva
    Ueceyler, Nurcan
    STEM CELL RESEARCH, 2018, 33 : 171 - 174
  • [49] Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene
    Pongpamorn, Praeploy
    Dahlmann, Julia
    Haase, Alexandra
    Ebeling, Carolin Theresa
    Merkert, Sylvia
    Goehring, Gudrun
    Lachmann, Nico
    Martens, Andreas
    Haverich, Axel
    Martin, Ulrich
    Olmer, Ruth
    STEM CELL RESEARCH, 2020, 43
12345