NTCC® NA20383 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA20383

Name：NTCC® NA20383 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20383
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: 30 YR
Gender性别: Female
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3
Remarks: Clinically affected; vision loss at age 5 years; seizures at age 11 years; movement and intelligence declined at age 12 years; EM showed fingerprint profile; donor subject is a compound heterozygote: one allele has a 1.02 kb deletion including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons resulting in a frameshift that generates a termination codon 84 bp downstream of the deletion junction [1-KB DEL, NT598] and a second allele has a G>A transition at nucleotide 1020 in exon 11 of the CLN3 gene [1020G>A] resulting in a substitution of lysine for glutamic acid at codon 295 [Glu295Lys (E295K)].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: CLN3
Disease疾病类型:
Mutations突变: 1-KB DEL, NT598 GLU295LYS
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