Name：NTCC? NA24202 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA24202
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 7 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: POMGNT1
Disease疾病類型:
Mutations突變: IVS21+1G>T
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net