GM20378 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20378 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2 B-Lymphocyte Cell Line
Ceroid 脂褐质沉着症，神经元 2，晚期婴儿型； CLN2 | CLN2基因； CLN2细胞株
Description描述：Clinically affected; slow speech at age 2 years; intelligence regressed at age 3 years; seizures at age 3 years; movement dysfunction at age 3.5 years; EM showed curvilinear profile; deficient lysosomal tripeptidyl peptidase 1 activity; donor subject is a compound heterozygote: one allele has a G>A transition of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>A] and a second allele has an A>G transition at nucleotide 4188 in intron 7 of the CLN2 (TPP1) gene [4188A>G] resulting in an inframe insertion of 6 amino acids between G296 and R297 [IVS7-18]._x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20378
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:16 YR
Gender性别:Female
Cell Type细胞类型: CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2
Affected State:Yes
Product:LCL
Gene:CLN2
Mutations突变:4188A>G IVS5-1G>A
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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