Specific induced pluripotent stem cell line containing CLCN2 homozygous mutation for leukoencephalopathy patients

A technology of pluripotent stem cells and leukoencephalopathy, applied in the field of specific induced pluripotent stem cell lines and construction of leukoencephalopathy patients, can solve the problems of unclear pathogenic mechanism and no effective treatment methods
CN111440771AInactive Publication Date: 2020-07-24THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
Publication Date
2020-07-24
Estimated Expiration
Not applicable · inactive patent

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Abstract

The invention discloses a specific induced pluripotent stem cell line containing CLCN2 homozygous mutation (c.2257C>T) for leukoencephalopathy patients. Urine of a patient with CLCN2 gene mutation iscollected, urine cells are separated and cultured, and the urine cells are reprogrammed into induced pluripotent stem cells to obtain the specific induced pluripotent stem cell line containing CLCN2 homozygous mutation (c.2257C>T) for leukoencephalopathy patients. The STR of the induced pluripotent stem cells is the same as that of the CLCN2 patient, and the induced pluripotent stem cells expressea pluripotent molecular tag, have ability of forming teratoma in vivo, and can provide a new biological material and a cell model tool for pathogenesis and treatment research of CLCN2 mutation related diseases.
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Description

technical field

[0001] The invention belongs to the field of biomedicine, and in particular relates to a leukoencephalopathy patient-specific induced pluripotent stem cell line containing CLCN2 homozygous mutation (c.2257C>T) and a construction method thereof. Background technique

[0002] CLCN2 gene is a gene encoding chloride channel 2 (Chloride Channel 2, ClC-2) protein. ClC-2 is widely distributed in the human body, especially in the brain, where it plays an important role in regulating water and electrolyte balance [1]. ClC-2 functions in multiple organs and tissues [2]. Among them, CLCN2-related leukoencephalopathy (CC2L) is an autosomal recessive genetic disease caused by mutations in the CLCN2 gene that lead to ClC-2 dysfunction. CC2L patients often present with retinochoroidopathy or optic atrophy, male infertility, cerebellar ataxia, cognitive impairment, learning disabilities, etc. Brain MRI usually shows degeneration of myelin vacuoles[3-5].

[0003] In the ...

Claims

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