Name細胞名稱：NTCC? GM25386 CHOROIDEREMIA; CHM | CHM GENE; CHM Skin, Skin Cell Line
脈絡膜血癥；化學物質管理 |中藥基因； CHM細胞株
Description描述：Clinically affected; onset of symptoms at 14 years of age; diagnosed at 61 years of age; DNA sequencing through exons 5 and 6 of the CHM gene using genomic DNA from the subject's white blood cells revealed a hemizygous, probable highly-penetrant disease-causing variant: Arg270Stop CGA>TGA and a hemizygous non-disease-causing variant Ala117Ala GCA>GCG; family history: subject has one brother affected with choroideremia (GM25399-lymph,GM25400-fibro) and one brother unaffected by the disease (not in repository); lymphoblast is GM25385.
Category分類：Fibroblast
ID編號:NTCC?-GM25386
Size/Quantity數量: 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: White
Age年齡:61 YR
Gender性別:Male
Cell Type細胞類型: CHOROIDEREMIA; CHM | CHM GENE; CHM
Affected State:Yes
Product:Fibroblast
Gene:CHM
Mutations突變:ARG270TER
Ethnicity:German/English
Family:3211
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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