CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells

被引：9

作者：

Xie Yingjun ^{[1
]}

Xie Yuhuan ^{[1
]}

Chen Yuchang ^{[1
]}

Li Dongzhi ^{[2
]}

Wang Ding ^{[1
]}

Song Bin ^{[1
]}

Yang Yi ^{[1
]}

Lu Dian ^{[1
]}

Xue Yanting ^{[1
]}

Xiong Zeyu ^{[1
]}

Liu Nengqing ^{[1
]}

Chen Diyu ^{[1
]}

Sun Xiaofang ^{[1
]}

机构：

[1] Guangzhou Med Univ, Key Lab Reprod & Genet Guangdong Higher Educ Inst, Key Lab Major Obstet Dis Guangdong Prov, Affiliated Hosp 3, Guangzhou 510080, Guangdong, Peoples R China

[2] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Children Med Ctr, Guangzhou, Guangdong, Peoples R China

来源：

ANNALS OF HEMATOLOGY | 2019年 / 98卷 / 12期

基金：

中国国家自然科学基金;

关键词：

HbH-CS thalassemia; CRISPR; Cas9; Induced pluripotent stem cells (iPSCs); PATIENT-SPECIFIC IPSCS; SEVERE BETA-THALASSEMIA; ALPHA-THALASSEMIA; THERAPY; DISEASE; MUTATIONS; EFFICIENT;

D O I：

10.1007/s00277-019-03763-2

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Haemoglobin (Hb) H-constant spring (CS) alpha thalassaemia (- -/-alpha(CS)) is the most common type of nondeletional Hb H disease in southern China. The CRISPR/Cas9-based gene correction of patient-specific induced pluripotent stem cells (iPSCs) and cell transplantation now represent a therapeutic solution for this genetic disease. We designed primers for the target sites using CRISPR/Cas9 to specifically edit the HBA2 gene with an Hb-CS mutation. After applying a correction-specific PCR assay to purify the corrected clones followed by sequencing to confirm the mutation correction, we verified that the purified clones retained full pluripotency and exhibited a normal karyotype. This strategy may be promising in the future, although it is far from representing a solution for the treatment of HbH-CS thalassemia now.

引用

页码：2661 / 2671

页数：11

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