Name細胞名稱：NTCC? GM25571 CHOROIDEREMIA; CHM | CHM GENE; CHM 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; direct sequencing of the coding region and adjacent splice sites of the CHM gene revealed a c.757C>T (R253X)nonsense mutation in exon 6 of the CHM; immunoblot analysis of protein derived from white blood cells confirmed the absence of Rab escort protein-1 (REP1)-the normal CHM gene product; family history includes: affected brother, maternal grandfather, and 2 maternal uncles (not in repository); donor subject is referred to as "living brother" in Survey of Ophthalmology 54 (3):401-407, 2009 - PMID 19422966.
Category分類：Fibroblast
ID編號:NTCC?-GM25571
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:49 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:ARG253TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
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
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