NTCC® NA02533 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02533

Name：NTCC® NA02533 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02533
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 YR
Gender性别: Female
Description描述: MUCOLIPIDOSIS IV | MUCOLIPIN 1; MCOLN1
Remarks: Ashkenazi; see GM02048 Fibroblast; affected sib is GM02529 Amniotic; photophobia; bilateral corneal opacities; abnormal lysosomal storage bodies; donor subject is a compound heterozygote: one allele has an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene (IVS3AS-2A>G) resulting in the skipping of exon 4; the second allele has a 6,450 bp deletion spanning a region from 928 bp upstream from the first exon to bp 31 of exon 7 (del ex1-ex7)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MCOLN1
Disease疾病类型:
Mutations突变: 6,450-BP DEL IVS3AS,A>G,-2
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net