NTCC® NA24202 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA24202

Name：NTCC® NA24202 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24202
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: 7 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 | PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1
Remarks: Clinically affected; symptom onset at 2-5 years age range; maximum motor function ever achieved and current maximum motor function: climbing stairs with handrail; held head up at 10 months, turned in bed at 18 months, sat at 15 months, stood at 18 months; walked indoors at 4 years with assistance, walked outdoor at 4.5 years with assistance, climbed stairs at 4.5 years with handrail; cannot run; brain involvement; abnormal CT scan revealed polymicrogyria and cerebellar cysts; CMD confirmed by blood test/creatine kinase abnormal, brain MRI, muscle imaging, and genetic testing; POMGT1 sequencing revealed: a heterozygous c.1895+1G>T mutation. This change is believed to be pathogenic, causing a splice donor site error affecting intron 21 processing; a homozygous c.1867A>G variant (p.M623V) was also identified but is not believed to be pathogenic; two additional polymorphisms were identified: ex7 heterozygous c.636C>T (p.F212F) and ex8 heterozygous c.681A>G (p.K227F).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: POMGNT1
Disease疾病类型:
Mutations突变: IVS21+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