GM20385 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® GM20385 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; developmentally normal until age 3.5 years when a febrile seizure occurred; afebrile generalized tonic clonic seizures began a few months after the first febrile seizure; a MRI at age 4.3 years showed increased signal intensity on T1 and T2 weighted images with enlarged temporal horns and slightly prominent lateral ventricles; repeat MRI at age 5 years showed prominent ventricle and axial fluid spaces; EEG showed epileptic discharge bitemporarally; progressive ataxia, dysarthria, and dementia developed at age 5 years; at age 6 years receptive language was below the level of 4.5 years and expressive language was at 2 year old level; pale optic discs and partial blindness; increased sialorrhea; hypertonia; hyperactive deep tendon reflexes; equivocal plantar responses; wide-based gait with some circumduction; tremors and dysmetria; mixed profiles of curvilinear and fingerprints in enlarged lysosomes present in buffy-coat and skin biopsy; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] and a second 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]; same subject as GM27177 (stem cell).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20385
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: Not Reported
Age年龄:11 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:IVS5-1G>A IVS5AS, G>C, -1
Ethnicity:
Family:3406
Relationship:proband
Karyotype:46,XX[25].arr(1-22,X)x2
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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