Name：NTCC? NA03402 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA03402
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 30 YR
Gender性別: Male
Description描述: BLOOM SYNDROME; BLM | RECQ PROTEIN-LIKE 3; RECQL3
Remarks: Clinically affected; B.S. Registry #9; birth weight = 2,000 grams; failure to thrive in infancy with vomiting and diarrhea; weight at 18 months = 3.5 kg; at age 10 years: weight = 17.3 kg (mean weight of 4 1/2 year old), height = 118 cm (mean height of 6 1/2 year old); microcephaly; congenital dwarfism; facial telangiectasias: telangiectatic erythematous spots covered the nose, the adjacent parts of the cheeks, and lower part of the forehead; bullous crusted lesions covering the vermilion of underlip; cafe-au-lait spots on right shoulder and back; normal bone age at age 10 years; photosensitivity; high-pitched voice; rectal carcinoma and basal cell carcinoma of eyelid diagnosed at age 38 years; increased sister chromatid exchange; chromosome breakage; reduced level of DNA ligase I activity; donor subject is homozygous for a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM03403 B-lymphocyte.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: RECQL3
Disease疾病類型:
Mutations突變: 6-BP DEL/7-BP INS
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
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net