GM09404Ceroid 脂褐质沉着症，神经元 2，晚期婴儿型； CLN2 | CLN2基因； CLN2成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM09404 CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2 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：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)].
Category分类：Fibroblast
ID编号:NTCC®-GM09404
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: Asian
Age年龄:
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:Fibroblast
Gene:CLN2 CYP2D6
Mutations突变:ILE287ASN PRO34SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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:

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