NTCC® NA02528 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02528

Name：NTCC® NA02528 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02528
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: 8 MO
Gender性别: Male
Description描述: MUCOLIPIDOSIS IV | GLUCOSIDASE, ACID BETA; GBA | MUCOLIPIN 1; MCOLN1
Remarks: Ashkenazi; fibroblasts show grossly abnormal storage bodies and normal levels of acid hydrolases; donor subject is homozygous for an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene [IVS3-2A>G] resulting in the skipping of exon 4; donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene [1226A>G] resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GBA MCOLN1
Disease疾病类型:
Mutations突变: ASN370SER 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