GM26216 PITT-HOPKINS SYNDROME; PTHS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26216 PITT-HOPKINS SYNDROME; PTHS B-Lymphocyte Cell Line
皮特霍普金斯综合症； PTHS细胞株
Description描述：Clinically affected; Symptom onset while in the womb (no amniotic fluid); mother was 35 when gave birth to this individual, no amniotic fluid after 32 weeks; dysmorphic features: strabismus as an infant, beaked nasal bridge, wide open mouth, slender/small hands and feet, fetal pads, simian crease; symptoms: absent or sparse speech, clonus, limited walking ability, hypotonia, hypertonia, unstable ataxic gait, defective vision, delayed motor development, incoordination, sleep difficulties, constipation, gastroesophageal reflux, intellectual disability, autism, anxiety, sensory processing disorder; microarray CGH analysis revealed a 7.6 Mb interstitial deletion from 47655826 bp to 55277501 bp of chromosome 18q21.31; assistive devices: wheelchair, orthotics, walker, communication/learning device, glasses; treatment: physical therapy, speech language therapy, occupational therapy, special education services, horse therapy, water therapy, music therapy; medications: senna, suppository.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26216
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: PITT-HOPKINS SYNDROME; PTHS
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:American
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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