Name細(xì)胞名稱：NTCC? GM21939 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 Skin, Unspecified Cell Line
馬凡氏綜合癥； MFS |纖維蛋白1； FBN1細(xì)胞株
Description描述：Clinically affected; long fingers at birth; bilateral lens dislocation; adult height of 186cm with long arms and legs; narrow highly arched palate; dental crowding; chest asymmetry and pectus deformity (upper sternum protrudes); hyperextensible large and small joints; arthritis; arachnodactyly; frequent thumb dislocations; pes planus; thin fragile skin; ectopia lentis; high-grade myopia; glaucoma requiring surgery at 18 years of age; cardiac arrhythmia; aortic root diameter was 4.5cm at age 46 years; no family history; donor subject has a genomic deletion of exons 42 and 43 of the FBN1 gene
Category分類：Fibroblast
ID編號(hào):NTCC?-GM21939
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race:
Age年齡:40 YR
Gender性別:Female
Cell Type細(xì)胞類型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突變:DEL EX42-43
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養(yǎng)基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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