NTCC® NA10273 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA10273

Name：NTCC® NA10273 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA10273
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: 8 YR
Gender性别: Female
Description描述: ANIRIDIA 1; AN1 | TRANSLOCATED CHROMOSOME
Remarks: Clinically affected; aniridia and nystagmus noted in newborn period; developmental delay noted at 9 months; brachydactyly of fifth digits; hemangioma of right labia majora; microcephaly; hypotonia; normal deep tendon reflexes; IQ=59; ophthalmologic exam in childhood revealed aniridia with rudimentary irides, bilateral exotropia, nystagmus, and foveal hypoplasia; glaucoma and bilateral subcapsular cataracts noted at age 4; no genitourinary tract abnormalities; familial chromosome translocation; father (GM10274), paternal half-brother(10272), and paternal grandmother also affected with aniridia and familial chromosome translocation; unaffected mother is GM10275; seven family members in 4 generations affected with aniridia but karyotype unknown.
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Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
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Mutation description突变描述:
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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