GM21814埃勒斯-当洛斯综合征，II 型； EDS2 | V 型胶原蛋白，ALPHA-1； COL5A1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM21814 EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | COLLAGEN, TYPE V, ALPHA-1; COL5A1 B-Lymphocyte Cell Line
埃勒斯-当洛斯综合征，II 型； EDS2 | V 型胶原蛋白，ALPHA-1；彩色5A1细胞株
Description描述：Clinically affected; pain in ankles and wrists; weak arms; joint pain and swelling in knees; beaked nose; corrected overbite; mild micrognathia; high palate; high myopia; right pupil larger than left; spleen tip palpable; soft mildly extensible skin; cigarette paper scars; poor wound healing; bruising; mild lower scoliosis; lumbar lordosis; hyperextension of all limbs and joints tested; pes planus; Beighton score 8/9; three bladder surgeries to correct incontinence; minimal disc buldging at L3-L4; L4 hemangioma; see GM21815 Fibroblast; donor subject has an A>G transition in exon 16 of the COL5A1 gene resulting in the substitution of glycine for serine at codon 530 [Ser530Gly (S530G)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM21814
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:49 YR
Gender性别:Female
Cell Type细胞类型: EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | COLLAGEN, TYPE V, ALPHA-1; COL5A1
Affected State:Yes
Product:LCL
Gene:COL5A1
Mutations突变:SER530GLY
Ethnicity:
Family:2723
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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