Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene

Jingyun Guan; Xiaolin Liu; Haiyan Zhang; Yuqiang Lv; Xiaojing Wang; Xiaomeng Yang; Yanyan Ma; Qiji Liu; Yi Liu; Wenjie Sun

doi:10.1016/j.scr.2019.101628

Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene

Jingyun Guan
, Xiaolin Liu
, Haiyan Zhang
, Yuqiang Lv
, Xiaojing Wang
, Xiaomeng Yang
, Yanyan Ma
, Qiji Liu
, Yi Liu
, Wenjie Sun

Qilu Children's Hospital of Shandong University
Shandong University

科研成果: 期刊稿件 › 文章 › 同行评审

2 引用（Scopus）

摘要

CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.

源语言	英语
文章编号	101628
期刊	Stem Cell Research
卷	41
DOI	https://doi.org/10.1016/j.scr.2019.101628
出版状态	已出版 - 12月 2019
已对外发布	是

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10.1016/j.scr.2019.101628

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title = "Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007\_1011del, p.(Ile336fs) in CUL4B gene",

abstract = "CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007\_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.",

author = "Jingyun Guan and Xiaolin Liu and Haiyan Zhang and Yuqiang Lv and Xiaojing Wang and Xiaomeng Yang and Yanyan Ma and Qiji Liu and Yi Liu and Wenjie Sun",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors",

year = "2019",

month = dec,

doi = "10.1016/j.scr.2019.101628",

language = "英语",

volume = "41",

journal = "Stem Cell Research",

issn = "1873-5061",

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TY - JOUR

T1 - Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene

AU - Guan, Jingyun

AU - Liu, Xiaolin

AU - Zhang, Haiyan

AU - Lv, Yuqiang

AU - Wang, Xiaojing

AU - Yang, Xiaomeng

AU - Ma, Yanyan

AU - Liu, Qiji

AU - Liu, Yi

AU - Sun, Wenjie

PY - 2019/12

Y1 - 2019/12

N2 - CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.

AB - CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.

UR - https://www.scopus.com/pages/publications/85074165626

U2 - 10.1016/j.scr.2019.101628

DO - 10.1016/j.scr.2019.101628

M3 - 文章

C2 - 31678776

AN - SCOPUS:85074165626

SN - 1873-5061

VL - 41

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101628

ER -

Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene

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