GM25502 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® GM25502 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：Affected; pachygyria; microcephaly, chorioretinopathy; global developmental delay; attention deficit; hyperactivity and mood lability: hypermotor behavior, readily distractable, some tantrum behavior, poor response to discipline; age in months/occipital frontal circumference (OFC in cm): 1.5/32, 4.5/34, 12.5/37, 17.5/38, 23.5/39, 28.5/39, 35.5/41; homozygous mutation TUBGCP6 c.5458T>G (p.Ter1820Gly); photocoagulation surgery performed to preserve vision at 6 months of age; stable result for the right eye and some macular scarring but preserved vision in the left eye observed during an exam a year later; treatments: early intervention, monitor for seizures, Risperidone; affected brother (GM25503, fibroblast); unaffected carrier father (GM25504, fibroblast).
Category分类：Fibroblast
ID编号:NTCC®-GM25502
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:2 YR
Gender性别:Female
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: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