Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of th...

by Min Gao, Xinyu Li, Yuqiang Lv, Xiaomeng Yang, Yi Liu, Zhongtao Gai
Published 2024-06-01

Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPS...

by Haiyan Zhang, Huawei Zhang, Yanyan Ma, Yuqiang Lv, Zhongtao Gai, Yi Liu
Published 2021-03-01

An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene

by Xiaomeng Yang, Hongxia Zhang, Min Gao, Yuqiang Lv, Wei Song, Chunhong Duan, Yi Liu
Published 2023-12-01

An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene

by Haiyan Zhang, Yanyan Ma, Yuqiang Lv, Ya Wan, Quanli Zhao, Zhongtao Gai, Yi Liu
Published 2020-05-01

Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation

by Jingyun Guan, Li shen, Chen Liu, Yuqiang Lv, Haiyan Zhang, Yi Liu, Zhongtao Gai
Published 2024-04-01

Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3C...

by Hongmei Xin, Yuqiang Lv, Xuxia Wei, Wei Song, Zilong Li, Yi Liu, Zhongtao Gai
Published 2024-06-01

Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene

by Yanxin Wang, Xiaomeng Yang, Haiyan Zhang, Ning Liu, Yong Liu, Zhongtao Gai, Yi Liu, Yuqiang Lv
Published 2023-09-01

Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene

by Ning Liu, Yuan Zhang, Rui Dong, Yuqiang Lv, Ming Gao, Xiaomeng Yang, Yi Liu, Zhongtao Gai
Published 2024-04-01

Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene

by Haiyan Zhang, Chen Liu, Yanyan Ma, Lin Lin, Yuqiang Lv, Min Gao, Zhongtao Gai, Yi Liu
Published 2021-05-01

Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

by Yanxin Wang, Yuqiang Lv, Xiaomeng Yang, Yue Li, Zilong Li, Zaifen Gao, Zhongtao Gai, Yi Liu
Published 2022-10-01

PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene

by Ning Liu, Xiaomeng Yang, Sulan Wang, Rui Dong, Yue Li, Yuqiang Lv, Yi Liu, Zhongtao Gai
Published 2021-03-01

Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in...

by Xiaomeng Yang, Chen Liu, Haiyan Zhang, Yuqiang Lv, Yue Li, Zilong Li, Yi Liu, Zhongtao Gai
Published 2023-02-01

Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25

by Xiaomeng Yang, Chunhong Duan, Haiyan Zhang, Yue Li, Jingyun Guan, Dong Wang, Yuqiang Lv, Zhongtao Gai, Yi Liu
Published 2021-03-01

An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene

by Yanyan Ma, Haiyan Zhang, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Zhongtao Gai, Yi Liu
Published 2020-03-01

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene

by Ning Liu, Yongsheng Ge, Yanan Yang, Fen Zhao, Yuqiang Lv, Zilong Li, Rui Dong, Yi Liu, Zhongtao Gai
Published 2024-04-01

Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variation...

by Xiaomeng Yang, Ning Liu, Hong Mu, Yuqiang Lv, Haiyan Zhang, Yue Li, Jingyun Guan, Zhongtao Gai, Yi Liu
Published 2021-03-01

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene

by Yanyan Ma, Haiyan Zhang, Xiaomeng Yang, Yue Li, Jingyun Guan, Yuqiang Lv, Hongying Li, Yi Liu, Zhongtao Gai
Published 2019-10-01

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review

by Yanqing Zhang, Haozheng Zhang, Wei Wu, Dong Wang, Yuqiang Lv, Dongmei Zhao, Lingxiao Wang, Yi Liu, Kaihui Zhang
Published 2023-01-01

Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature

by Beibei Yan, Chao Wang, Kaihui Zhang, Haiyan Zhang, Min Gao, Yuqiang Lv, Xiaoying Li, Yi Liu, Zhongtao Gai
Published 2019-08-01

Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene

by Zilong Li, Chen Liu, Hongmei Xin, Yuqiang Lv, Min Gao, Jian Ma, Ning Liu, Zhongtao Gai, Yi Liu
Published 2024-04-01