NTCC® NA25431 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA25431

Name：NTCC® NA25431 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25431
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: 9 YR
Gender性别: Female
Description描述: EPILEPSY, TYPE UNKNOWN | GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2
Remarks: Clinically affected; onset of symptoms at 2 months of age; diagnosed at 9 years by geneticist; refractory epilepsy; seizures; mental retardation and global developmental delay; vision impairment; severe hypotonia (low muscle tone) and aspirations; failure to thrive; neurogenic scoliosis; abnormal EEG; assistive devices: wheelchair, braces, communication/learning device; therapies: psychological, speech language; medications: lamotrigine; surgeries: muscle biopsy, gastric feeding tube; subject is heterozygous for de novo Pro282Ser (c.844C>T) mutation in the GABRG2 gene (as confirmed by sequencing of genomic DNA); unaffected mother is GM25432 (fibroblast).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GABRG2
Disease疾病类型:
Mutations突变: PRO282SER
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