NTCC® NA26073 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA26073

Name：NTCC® NA26073 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26073
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 22 MO
Gender性别: Female
Description描述: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: TCF4
Disease疾病类型:
Mutations突变: c.1297-1G>T
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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