GM21595埃勒斯-当洛斯综合征：IV 型；动脉，瘀血类型 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® GM21595 EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE Skin, Unspecified Cell Line
埃勒斯-当洛斯综合征：IV 型；动脉，瘀血型细胞株
Description描述：Clinically affected; repeat hematomas in legs; pain in shoulders, left wrist, lower back, feet and ankles; abnormal auricles (attached plina); abnormal ear canals; mild micrognathia; high palate; blue sclerae; downsloping ribs; pectus carinatum; abnormal auscultation; decreased breath sounds; blood pressure 120/76; skin soft texture and cigarette paper scars with hyperextensibility; striae at knees, legs and hips; bruising; mild scoliosis; hyperextension of shoulders and elbows; hip limitation; pes planus; genu valga; anemia; constipation; early onset degenerative disease of spine; irregular carotids; dural ectasia noted at all levels; spondylolisthesis at L5-S1; disc desiccation at L1-L2; donor subject is heterozygous for a 1 bp deletion in intron 37 of the COL3A1 gene (IVS37+1delG); see GM21594 Lymphoid
Category分类：Fibroblast
ID编号:NTCC®-GM21595
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:23 YR
Gender性别:Male
Cell Type细胞类型: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
Affected State:Yes
Product:Fibroblast
Gene:COL3A1
Mutations突变:IVS37+1delG
Ethnicity:
Family:2661
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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