Name:NTCC? NA15603 LCL DNACategory分類:DNACat#貨號(hào):NTCC?-Coriell NA15603Size/Quantity數(shù)量: 1 VialBiosafety Level生物安全級(jí)別:1Shipping Info運(yùn)輸方式: RTStorage儲(chǔ)存方式: 4CSpecies物種來源: Age年齡: 39 YRGender性別: MaleDescription描述: UNIPARENTAL DISOMY CHROMOSOME 8 | COPY NUMBER VARIATION (CNV) REFERENCE PANELRemarks: Uniparental isodisomy for chromosome 8; history of asthma as child; at age 13 years a torsion of appendix testis on the left side was diagnosed and at the time of surgery two appendices were discovered with normal pathology; at age 14 years a pea-sized lump was removed from the area of the right slighlty gynecomastic breast; at age 26 years an ileal carcinoid tumor of about 1 cm in diameter was removed proximal from the ileocecal junction and tumor cells also found in four enlarged regional lymph nodes; at age 33 years joint pain developed in the proximal interphalangeal joint of the left index finger, left ankle, and left knee; swollen joints; the sedimentation rate was high (over 90); HLA B27 was positive; serologic tests for rheumatoid arthritis were negative; symptoms of early presbyopia at age 39 years; slight thoracal scoliosis; numerous pigmented nevi and histology on one indicated a normal nevus pigmentosus intradermalis; several small cherry hemangiomas on trunk; three irregularly shaped depigmented maculae of about 2 cm diameter each on the right scapular region; normal intelligence.Alternate IDs其他編號(hào): Cell Type細(xì)胞類型:
LCLSource組織來源: LCLGene: Disease疾病類型: Mutations突變: Karyotypes核型: Cytogenetics: Mutation description突變描述: Origin: Transformants: Alias別名: Images圖片:References參考文獻(xiàn):Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
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