Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene.

Mao, Shengru; Ding, Chengcheng; Zhou, Yalan; Jing, Yutong; Chen, Juan; Guo, Yonglong; Liu, Jian; Cui, Zekai; Yan, Xin; Gu, Jianing; Wang, Yini; Chen, Jiansu; Tang, Shibo

Mao, Shengru; Ding, Chengcheng; Zhou, Yalan; Jing, Yutong; Chen, Juan; Guo, Yonglong; Liu, Jian; Cui, Zekai; Yan, Xin; Gu, Jianing; Wang, Yini; Chen, Jiansu; Tang, Shibo.

Afiliação

Mao S; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Ding C; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Zhou Y; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Jing Y; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Chen J; Changsha Aier Eye Hospital, #388 Furong Middle Road, Changsha, Hunan 410015, China.
Guo Y; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China.
Liu J; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Cui Z; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Yan X; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Gu J; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Wang Y; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China.
Chen J; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Key Laboratory for Regenerat
Tang S; Aier School of Ophthalmology, Central South University, P.R.C., 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; Aier Eye Institute, 18th floor, the New century building, #198 Furong Middle Road, Changsha, Hunan 410015, China; CAS Center for Excellence in

Stem Cell Res ; 43: 101718, 2020 03.

Article em En | MEDLINE | ID: mdl-32050117

ABSTRACT

ABSTRACT

X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene. In this study, an induced pluripotent stem cell (iPSC) line was generated from human peripheral blood mononuclear cells (PBMC) of a 13-year-old male patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. The iPSCs exhibited iPSC morphology, expression of the pluripotency markers and in vitro differentiation potential, and the CSUASOi005-A iPSC line retained the original mutation (c.527T > A) of RS1 with a normal karyotype.

Assuntos

Proteínas do Olho/genética; Células-Tronco Pluripotentes Induzidas/metabolismo; Leucócitos Mononucleares/metabolismo; Retinosquise/genética; Adolescente; Humanos; Masculino; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucócitos Mononucleares / Retinosquise / Proteínas do Olho / Células-Tronco Pluripotentes Induzidas Limite: Adolescent / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2020 Tipo de documento: Article

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