Name：NTCC? NA23277 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23277
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: 16 YR
Gender性別: Female
Description描述: CHROMOSOME 2Q37 DELETION SYNDROME | HISTONE DEACETYLASE 4; HDAC4
Remarks: Clinically affected; mental retardation; behavioral problems (agression and self-injurious behavior like skin picking); obesity; mild type E brachydactyly; developmental delay; motor delay; language impairment; sleeping difficulties; decreased sensitivity to pain; short stature; broad face; upslanting eyes; broad, not upturned nose; small chin; narrow palpebral fissures; constipation; hypermobility; bitemporal narrowing; dental anomalies; donor subject is heterozygous for a de novo 65 bp deletion in intron 5 of the HDAC4 gene (490+56_121del65) predicted to alter the splicing of exons 5 and 6
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: HDAC4
Disease疾病類型:
Mutations突變: 65-BP DEL, NT490+56
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