GM26258 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26258 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 B-Lymphocyte Cell Line
皮特霍普金斯综合症； PTHS |转录因子 4； TCF4细胞株
Description描述：Clinically affected; Same individual as GM26580 (fibroblast); Diagnosed at 8 years of age; Onset of symptoms at birth; Broad nasal bridge; Wide open mouth; Tented/cupid bowed upper lip; Widely spaced teeth; Thick, fleshy lips; Slender/small hands and feet; Absent or sparse speech; Hypotonia; Limited walking ability; Unstable/ataxic gait; Delayed motor development; Incoordination; Strabismus; Defective vision; Abnormal breathing patterns; Apnea; Constipation; Intellectual disability; Stereotypical movements; Happy personality; Autism; Sensory processing disorder; Sequencing found c.1726C>T (p.Arg576X) mutation in the TCF4 gene on chromosome 18q21.2; Assistive devices: wheelchair, orthotics, glasses, communication/learning device; Treatment and management: Physical therapy, occupational therapy, speech therapy, and special education services.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26258
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: More than one race
Age年龄:15 YR
Gender性别:Female
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Affected State:Yes
Product:LCL
Gene:TCF4
Mutations突变:c.1726C>T (p.Arg576Ter)
Ethnicity:European & Native American
Family:3367
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