NTCC® NA25987 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25987

Name：NTCC® NA25987 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25987
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: 2 YR
Gender性别: Female
Description描述: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Remarks: Clinically affected; symptom onset at birth; diagnosed at 2 years; mild dysmorphic features: bitemporal narrowing, epicanthal folds, strabismus, high arched narrow palate, and low set simple ears; constipation; delayed motor milestones; speech delay; global developmental delay; whole exome sequencing (WES) revealed a de novo heterozygous c.1738C>T (p.R580W) pathogenic variant in the TCF4 gene; therapies: physical therapy and occupational therapy; family history: two maternal cousins (not in repository) with intellectual disability; unaffected mother is GM25988.
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: ARG580TRP; c.1738C>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