A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C

被引：12

作者：

Akaboshi, S

Yano, T

Miyawaki, S

Ohno, K

Takeshita, K

机构：

[1] TOTTORI UNIV,FAC MED,SCH LIFE SCI,DEPT NEUROBIOL,YONAGO,TOTTORI 683,JAPAN

[2] NIPPON SHINYAKU CO LTD,RES LABS,KYOTO 607,JAPAN

来源：

HUMAN GENETICS | 1997年 / 99卷 / 03期

关键词：

D O I：

10.1007/s004390050370

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A cell line (SPM-3T3) derived from a C57BL/ KsJ mouse model of Niemann-Pick disease type C (NP-C) shows biochemical abnormalities similar to those in fibroblasts derived from NP-C. Somatic cell hybridization analysis of the SPM-3T3 cells and five fibroblast strains derived from NP-C patients (four childhood cases and one adult case) was carried out. The criterion for complementation was the restoration of a normal intracellular fluorescent pattern in multinucleated cells stained with filipin to demonstrate cholesterol accumulation. These cells can be assigned to two complementation groups. The SPM-3T3 cells did not complement cell strains derived from childhood-type NP-C, while they complemented a cell strain derived from an adult patient. Our results suggest that SPM-3T3 represents a genetically authentic model of a major complementation group of NP-C, and that NP-C consists of genetically heterogeneous groups.

引用

页码：350 / 353

页数：4

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