Name：NTCC? NA11852 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11852
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: 1 YR
Gender性別: Male
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Remarks: Clinically affected; pregnancy complicated by vaginal bleeding at 10 weeks, and by brief episode of false pregnancy at 6 months; uncomplicated full-term birth; hyperbilirubinemia as neonate; history of 錕絙ehavioral錕?problems (colic, disinterest in toys, crying, rarely smiling, demanding parents錕?attention); examination at 8 months of age revealed bilateral macular pallor with prominence of fovea centralis (cherry red spots), poor visual fixation, abnormal startle response, decreased language, and decreased motor development (decreased tone in upper extremities, increased tone at both ankles with sustained clonus); progressive encephalopathy; developmental milestones include: rolled from front to back at 3 months (did not roll from back to front), sat without support at 6.5 months (unable to get to sitting position by himself), able to hold objects at 8 months (does not actively reach for objects); deficient hexosaminidase A activity in blood; donor subject is homozygous for a 4 base pair duplication in exon 11 of the HEXA gene, c.1274_1277dupTATC (p.Tyr427Ilefs), resulting in a premature termination signal; see GM11853 Fibroblast and GM23937 iPSC.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: HEXA
Disease疾病類型:
Mutations突變: c.1274_1277dupTATC
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(yǎng)物保藏中心
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