GM25383 CHOROIDEREMIA; CHM | CHM GENE; CHM Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25383 CHOROIDEREMIA; CHM | CHM GENE; CHM Skin, Skin Cell Line
脉络膜血症；化学物质管理 |中药基因； CHM细胞株
Description描述：Clinically affected; diagnosed at 13 years of age; onset of symptoms at 10 years of age; pigment mottling characteristic of choroideremia; decreased field of vision; abnormal ERG exam; at 12 years of age, an eye exam revealed the following: MD -13.64 DB (p<0.5), PSD 9.93 DB (p<0.5) for the left eye and MD -15.63 DB (p<0.5), PSD 10.90 DB (p<0.5) for the right eye; at 14 years, the visual acuity was OD #letters 79, Snellen 20/32 and OS #letters 84, Snellen 20/20 while the manifest retraction was OD -1.00 Sph=#Let 89=20/16, OS -1.00+0.25X100=#Let 91=20/16, RPE mottling, preservation of central macula; left eye average RPE thickness was 292 um and that for the right eye was 291 um; PCR sequence analysis revealed a causative hemizygous mutation in exon 6 of the CHM gene (Xq21.2): c.808C>T (p.Arg270Stop); sequencing also revealed hemizygous polymorphisms in intron 2 of the CHM gene: c.116+215insCCTTT (rs3078127) and c.116+80CC>T (rs1015148); treatment/management: omega 3, fish oil and lutein; same subject as GM25382 (LCL) and GM26663 (stem cell).
Category分类：Fibroblast
ID编号:NTCC®-GM25383
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: White
Age年龄:20 YR
Gender性别:Male
Cell Type细胞类型: CHOROIDEREMIA; CHM | CHM GENE; CHM
Affected State:Yes
Product:Fibroblast
Gene:CHM
Mutations突变:ARG270TER c.116+215insCCTTT c.116+80C>T
Ethnicity:European
Family:3210
Relationship:proband
Karyotype:46,XY.arr[hg19](1-22)x2,(XY)x1_x000D_
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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