NTCC® NA09404 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA09404

Name：NTCC® NA09404 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09404
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:
Gender性别: Female
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2
Remarks: Seizures, myoclonus, dementia, and spasticity; a brother died at age 11 with the same disease; diagnosis is most consistent with late infantile amaurotic idiocy; slightly elevated urinary dolichol; CLN2 protease deficient; the donor subject has one allele which carries a T-to-A transition at nucleotide g.4023 (c.860T>A) which converts the ile-287 codon (ATC) to asn (AAC), resulting in a missense mutation in exon 7 of the CLN2 (TPP1) gene [Ile287Asn (I287N)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: CLN2 CYP2D6
Disease疾病类型:
Mutations突变: ILE287ASN PRO34SER
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