Name：NTCC? NA25383 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25383
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 20 YR
Gender性別: Male
Description描述: CHOROIDEREMIA; CHM | CHM GENE; CHM
Remarks: 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).
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: CHM
Disease疾病類型:
Mutations突變: ARG270TER c.116+215insCCTTT c.116+80C>T
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
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
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