GM21640埃勒斯-当洛斯综合征，I 型； EDS1 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® GM21640 EHLERS-DANLOS SYNDROME, TYPE I; EDS1 Skin, Unspecified Cell Line
埃勒斯-当洛斯综合征，I 型； EDS1细胞株
Description描述：Clinically affected; negative collagen I and III studies; iliac arterial dissection; several family members with aneurysms; affected brother is GM22034; joint pain; joint swelling in ankles; prominent forehead; epicanthal fold; malar hypoplasia; soft auricles; abnormal ear canals; micrognathia; wide palate; SM cleft; blue sclerae; pectus carinatum; pain and tenderness in abdomen; left and right carotid bruit; soft hyperextensible skin; cigarette paper and keliod scarring; easy bruising; piezogenic papules; hyperextension in shoulders, elbows, hips, knees and CMC, MCP, PIP and DIP joints; pes planus; genu valga; chokes in sleep; visual floaters; headaches; rib pain; urinary tract infections; mild disc disease at C4-C7; grade I spondylolisthesis in L5-S1 lumbar spine; disc extrusion at L4-S1; see GM21639 Lymphoid; molecular analysis of this donor subject with respect to the COL5A1 gene showed one allele as wild type and one allele with a G>A change in exon 52 (null allele)
Category分类：Fibroblast
ID编号:NTCC®-GM21640
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:33 YR
Gender性别:Female
Cell Type细胞类型: EHLERS-DANLOS SYNDROME, TYPE I; EDS1
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:
Family:2676
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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