GM25503 MICROCEPHALY WITH CHORIORETINOPATHY | TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25503 MICROCEPHALY WITH CHORIORETINOPATHY | TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6 Skin, Skin Cell Line
伴有脉络膜视网膜病变的小头畸形 |微管蛋白-伽马复合物相关蛋白 6； TUBGCP6细胞株
Description描述：Clinically affected; microcephaly; global developmental delay; diagnosed with retinal dysplasia L>R at 2 weeks of age by pediatric ophthalmologist; several punched out lesions observed in superior and inferior arcades in the range of 20-30; optic nerves appeared relatively intact- slightly better in left eye than in right; age in months/occipital frontal circumference (OFC in cm): 25.5/38, 35.5/39, 45.5/42, 51.5/42, 62.5/40; homozygous mutation TUBGCP6 c.5458T>G (p.Ter1820Gly); affected sister (GM25502, fibroblast); unaffected carrier father (GM25504, fibroblast).
Category分类：Fibroblast
ID编号:NTCC®-GM25503
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:5 MO
Gender性别:Male
Cell Type细胞类型: MICROCEPHALY WITH CHORIORETINOPATHY | TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6
Affected State:Yes
Product:Fibroblast
Gene:TUBGCP6
Mutations突变:c.5458T>G
Ethnicity:Mennonite
Family:3243
Relationship:brother
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