GM25994 NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25994 NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A Skin, Skin Cell Line
雀巢综合症；雀巢 |驱动蛋白家族成员 1A； KIF1A细胞株
Description描述：Clinically affected; diagnosed at age 1; symptom onset at approximately age 1; global developmental delay and ataxia; MRI revealed cerebellar atrophy in the vermis and hemispheres; whole exome sequencing and Sanger sequencing of the KIF1A gene revealed a de novo heterozygous mutation: p.G484S; treatment: physical therapy, occupational therapy.
Category分类：Fibroblast
ID编号:NTCC®-GM25994
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: White
Age年龄:6 YR
Gender性别:Female
Cell Type细胞类型: NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
Affected State:Yes
Product:Fibroblast
Gene:KIF1A
Mutations突变:GLY484SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net