Generation of an Induced Pluripotent Stem Cell Line ICGi045-A of a RASopathy Patient Carrying p.Glu329Lys Variant in SOS1

被引：0
|
作者：
Dementyeva, E. V. [1 ]
Zaytseva, A. K. [1 ,2 ]
Minina, J. M. [1 ]
Melnik, O. V. [2 ]
Zakian, S. M. [1 ,3 ]
Kostareva, A. A. [2 ]
机构：
[1] Russian Acad Sci, Fed Res Ctr Inst Cytol & Genet, Siberian Branch, Novosibirsk 630090, Russia
[2] Almazov Natl Med Res Ctr, St Petersburg 197341, Russia
[3] Meshalkin Natl Med Res Ctr, Novosibirsk 630055, Russia
来源：
RUSSIAN JOURNAL OF DEVELOPMENTAL BIOLOGY | 2024年 / 55卷 / 01期
基金：
俄罗斯科学基金会;
关键词：
RASopathies; variants of unknown significance; induced pluripotent stem cells;
D O I：
10.1134/S1062360424700036
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
A combination of induced pluripotent stem cell (iPSC) technology and methods of nucleotide sequence editing allows clarifying contribution of genetic variants to human disease development. In this study, an iPSC line (ICGi045-A) of a RASopathy patient carrying a variant of unknown significance, c.985G>A (p.Glu329Lys) in SOS1, was generated. The ICGi045-A line displayed iPSC properties-similar morphology, expression of pluripotent state markers (OCT4, NANOG, SOX2, TRA-1-60), capacity to give rise to derivatives of three germ layers during spontaneous differentiation, and retained normal karyotype (46,XX). This line can be used for generating isogenic iPSC lines to find out clinical significance of c.985G>A (p.Glu329Lys) variant in SOS1.
引用
收藏
页码：26 / 33
页数：8
相关论文
共 50 条
  • [1] Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy
    Dementyeva, E. V.
    Klimenko, E. S.
    Minina, J. M.
    Zakian, S. M.
    Kostareva, A. A.
    RUSSIAN JOURNAL OF DEVELOPMENTAL BIOLOGY, 2023, 54 (SUPPL 1) : S75 - S81
  • [2] Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy
    E. V. Dementyeva
    E. S. Klimenko
    J. M. Minina
    S. M. Zakian
    A. A. Kostareva
    Russian Journal of Developmental Biology, 2023, 54 : S75 - S81
  • [3] Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)
    Cha, Yun-Ji
    Jeon, Sae-Bom
    Oh, Jaewon
    Lee, Seung-Tae
    Kim, Sangwoo
    Kim, Hyoeun
    Choi, Jungyoon
    Choi, Hyo-Kyoung
    Won, Dongju
    Choi, Jong Rak
    Kim, Seok-Jun
    Park, Sahng Wook
    Kang, Seok-Min
    Lee, Seung-Hyun
    STEM CELL RESEARCH, 2022, 60
  • [4] Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p. Glu161Lys mutation
    Cattelan, Giada
    Frommelt, Laura Sophie
    Volani, Chiara
    Colliva, Andrea
    Ciucci, Giulio
    Paldino, Alessia
    Dal Ferro, Matteo
    Di Segni, Marina
    Silipigni, Rosamaria
    Pramstaller, Peter P.
    De Bortoli, Marzia
    Zacchigna, Serena
    Rossini, Alessandra
    STEM CELL RESEARCH, 2023, 71
  • [5] 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
  • [6] Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A
    Ovechkina, V. S.
    Maretina, M. A.
    Egorova, A. A.
    Baranov, V. S.
    Kiselev, A., V
    Zakian, S. M.
    Valetdinova, K. R.
    STEM CELL RESEARCH, 2020, 48
  • [7] Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation
    Ruan, Jinghua
    Wu, Mengqing
    Xiang, Jiakai
    Hui, Xianrui
    Yang, Lijun
    Lin, Ru
    Xu, Weize
    Shu, Qiang
    STEM CELL RESEARCH, 2024, 81
  • [8] A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant
    Nandeesh, Bevinahalli Nanjegowda
    Maheshwari, Baduvandra Chettiyappa
    Nimonkar, Madhura Milind
    Deepha, Sekar
    Govindaraj, Periyasamy
    Mehta, Bhupesh
    Markandeya, Yogananda S.
    STEM CELL RESEARCH, 2025, 83
  • [9] Generation of a human induced pluripotent stem cell line from a patient diagnosed with schizophrenia carrying a 16p11.2 deletion
    Madencioglu, Deniz A.
    Kruth, Karina
    Shin, Mallory
    Andreasen, Nancy
    Wassink, Thomas
    Williams, Aislinn
    STEM CELL RESEARCH, 2022, 59
  • [10] Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene
    Zhigalina, D., I
    Malakhova, A. A.
    Vasilyeva, O. Yu
    Grigor'eva, E., V
    Sivtsev, A. A.
    Kolesnikov, N. A.
    Lopatkina, M. E.
    Savchenko, R. R.
    Zhalsanova, I. Zh
    Postrigan', A. E.
    Zarubin, A. A.
    Nikitina, T., V
    Bueverov, A. O.
    Bogomolov, P. O.
    Zakian, S. M.
    Skryabin, N. A.
    STEM CELL RESEARCH, 2021, 57
12345