Name細胞名稱：NTCC? GM21947 MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1 Skin, Unspecified Cell Line
馬凡氏綜合癥； MFS |纖維蛋白1； FBN1細胞株
Description描述：Clinically affected; pectus carinatum; scoliosis; high narrow palate; dental crowding; contractures; hypermobile small joints; hypermobile large joints; arachnodactyly; myopia; bilateral ectopia lentis; retinal detachment; ascending aortic aneurysm at age 50 years; mitral valve prolapse; mitral regurgitation; striae; donor subject has a T>C change at nucleotide 1495 in exon 12 of the FBN1 gene (1495T>C) resulting in the substitution of arginine for cysteine at codon 499 [Cys499Arg (C499R)]
Category分類：Fibroblast
ID編號:NTCC?-GM21947
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race:
Age年齡:50 YR
Gender性別:Female
Cell Type細胞類型: MARFAN SYNDROME; MFS | FIBRILLIN 1; FBN1
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突變:CYS499ARG
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養(yǎng)基: BioVector? Dulbecco Modified Eagles Medium (high glucose) 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:

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