GM20383 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20383 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3 B-Lymphocyte Cell Line
Ceroid 脂褐质沉着症，神经元 3，青少年； CLN3 | CLN3基因； CLN3细胞株
Description描述：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)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20383
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:30 YR
Gender性别:Female
Cell Type细胞类型: CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3
Affected State:Yes
Product:LCL
Gene:CLN3
Mutations突变:1-KB DEL, NT598 GLU295LYS
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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