GM26091 PITT-HOPKINS SYNDROME; PTHS Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26091 PITT-HOPKINS SYNDROME; PTHS Cell Line
皮特霍普金斯综合症； PTHS细胞株
Description描述：Clinically affected; short stature; wide mouth; large nose; single palmar crease; small hands/feet; ataxic gait; walked at 2 years old; only speaks 2 words, but receptive language is much better; developmental delays; autism spectrum disorder; ADHD; strabismus; weakness; hypotonia; eczema; regular constipation problems; microarray revealed that subject has a 5.5Mb interstitial deletion of 18q with breakpoints between 49.5Mb and 55.0Mb which affects the region between bands 18q21.2 and 18q21.32; therapies: physical, occupational, and speech; medications: prozac, amantadine, and zyrtec; surgeries: cryptorchidism repair, salivary duct relocation; see B-lymphocyte GM26090.
Category分类：Fibroblast
ID编号:NTCC®-GM26091
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:10 YR
Gender性别:Male
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:
Family:3216
Relationship:proband
Karyotype:46,XY,del(18)(q21.2q21.3)[21].arr[hg19] 18q21.2q21.32(51,267,084-56,851,176)x1_x000D_
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