NTCC® NA12260 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA12260

Name：NTCC® NA12260 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12260
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: 9 YR
Gender性别: Female
Description描述: PROTEUS SYNDROME
Remarks: Clinically affected; purple discoloration developed over the right leg at age 2 years; middle and index fingers on left hand were enlarged; during the second year of life toes also enlarged; plantar surfaces of feet exhibited soft-tissue overgrowth; by age 3 the vascular changes on right leg began to fade; linear pigmented plaques were noted over the axilla and extensor surface of the right arm extending to the hand; x-rays of hands showed multiple exostoses and increased bone length and width; digital shortening, phalangeal epiphysiodesis, and debulking procedures were performed on the left middle finger; because of progressive enlargement, amputation of the left middle finger was necessary at age 5; cerebriform lesions of feet; biopsy of plantar masses showed findings consistent with connective tissue nevi; multiple connective tissue hamartomata; normal cognitive development; decrease in subcutaneous tissue resulted in venous prominence and a mature facial appearance; pulmonary insufficiency with sequela of cardiac insufficiency; heart-lung transplant; normal fraternal twin brother is GM12202; parents are GM12200 and GM12201; a lymphoblast culture from this same donor is GM12203
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:
Mutations突变:
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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