NTCC® NA26037 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA26037

Name：NTCC® NA26037 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26037
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: 11 YR
Gender性别: Male
Description描述: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Remarks: Clinically affected; symptom onset at birth; diagnosed at 6 years of age; borderline microcephaly; intermittent exotropia; spastic diplegia; fetal pads present on fingers/toes; aplasia of the corpus callosum; pervasive developmental delay; moderate motor delay; stereotypic movements (biting hands); speech delay (receptive language better than expressive-uses some sign language); happy disposition; ADHD; drooling; constipation; normal EEG; genetic testing revealed subject is heterozygous for a nonsense mutation in the TCF4 gene (c.520C>T, p.Arg174X); medications: Amantadine, Tenex; Risperdal; therapies: speech therapy, special education; same subject as GM26038 (fibroblast) and GM27270 (stem cell).
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: ARG174TER; c.520C>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