NTCC® NA04250 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04250

Name：NTCC® NA04250 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04250
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: 2 YR
Gender性别: Female
Description描述: RETINOBLASTOMA, SPORADIC
Remarks: Clinically affected; diagnosed at 3 months of age with bilateral retinoblastoma; poor weight gain, weak sucking, cyanosis, and abnormal eye movement; slight normochromic anemia; developmental retardation; gross ophthalmological exam revealed leukocoria and sluggish pupillary light response in right eye; detailed exam of the right fundus showed a solid tumor with total retinal detachment, and the left fundus showed two elevated tumor masses; histological examination of the enucleated right eye revealed a well-differentiated retinoblastoma with focal necrosis and numerous rosette formation; procedures include: enucleation of right eye, transscleral cryocoagulation of the left eye, photocoagulation, and radiation; translocation of the long arm of chromosome 13 to the short arm of the X chromosome, karyotype: 46,XX,t(X;13)(p22; q13) in leukocytes; translocated X found to be preferentially inactivated in skin fibroblasts with the inactivation spreading over the translocated chromosome 13; chromosome studies of the parents and sibling revealed no abnormalities; erythrocyte esterase D type 1-1 identified in the proband, sibling and both parents.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene:
Disease疾病类型:
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Cytogenetics:
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