GM26073 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® GM26073 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; poor fetal growth; long QT post delivery; absent or sparse speech; hypotonia; limited walking ability; delayed motor development; strabismus; defective vision (wears glasses); fleshy ears; broad, beaked nasal bridge; flaring nostrils; downturned/pointed nasal tip; deep-set eyes; squint; short philtrum; tented/cupid bowed upper lip; downturned mouth; slender/small hands; slender/small feet; thin corpus callosum; happy personality; genetic testing confirmed heterozygous for de novo splice site mutation in TCF4 gene (c.1297-1G>T); treatment and management include: physical, speech, and occupational therapy.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26073
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:22 MO
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.1297-1G>T
Ethnicity:Polish/English
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