GM21995先天性挛缩性蜘蛛指畸形； CCA |原纤维蛋白2； FBN2 皮肤，未特指的成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21995 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA | FIBRILLIN 2; FBN2 Skin, Unspecified Cell Line
先天性挛缩性蜘蛛指畸形； CCA |原纤维蛋白2； FBN2细胞株
Description描述：Clinically affected; height 5 foot 6 inches; bilaterally dislocating patellae during childhood; chronic aches and pains in numerous joints, muscles, and tendons; tight hamstrings; dental crowding; positive wrist sign; mild thoracic scoliosis; long halluces; tight finger joints; straight elbows; genu valgus; under-developed calf muscles; abnormal external ears with an extra piece of cartilage present; myopia with astigmatism; three similarly affected daughters; donor subject has a G>C transversion at nucleotide 3340 in exon 25 of the FBN2 gene (c.3340G>C) resulting in the substitution of histidine for aspartic acid at codon 1114 [Asp1114His (D1114H)]
Category分类：Fibroblast
ID编号:NTCC®-GM21995
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:67 YR
Gender性别:Female
Cell Type细胞类型: CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA | FIBRILLIN 2; FBN2
Affected State:Yes
Product:Fibroblast
Gene:FBN2
Mutations突变:ASP1114HIS
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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