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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

Inactive Publication Date: 2020-07-24
THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Regarding CC2L, there are only a small number of case reports, and because there is no suitable disease model, its pathogenic mechanism is still unclear, and there is no effective treatment at present

Method used

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

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Embodiment 1

[0040] 1. Urine cell isolation culture and reprogramming

[0041] ①The patient was a 38-year-old female with intention tremor of both hands, memory loss, tinnitus, and vision loss; physical examination revealed cerebellar ataxia; brain MRI revealed abnormal T1 in the white matter of the internal capsule, cerebral peduncle, and middle cerebellar peduncle The weighted images were hypointense, and the T2-weighted images were hyperintense. Subsequent Sanger sequencing confirmed that there was a homozygous pathogenic mutation in the CLCN2 gene (Exon20:c.2257C>T; p.Arg753Ter). This case met the diagnostic criteria for CC2L.

[0042] Cells: urine cells from patients with CC2L

[0043] ②Reagents and consumables:

[0044] 1) DMEM / Ham's F-12 nutrient mix (1:1): STEMCELL Technologies, #05851

[0045] 2) FBS: Natocor, #SFBE

[0046] 3) Renal epithelial cell growth medium (REGM) supplement: Lonza, #CC-4127

[0047] 4) TrypLE express: Life technologies, #12604013

[0048] 5) Double an...

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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.

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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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N5/10C12N15/85C12N15/12
CPCC07K14/47C12N5/0696C12N15/85C12N2510/00C12N2800/107
Inventor 彭福华钟秀风陈灼林
Owner THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
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