Name：NTCC? NA09295 LCL DNA
Category分類(lèi)：DNA
Cat#貨號(hào):NTCC?-Coriell NA09295
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(lái)源:
Age年齡: 23 YR
Gender性別: Male
Description描述: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | GLUCOSIDASE, ACID BETA; GBA | HEXOSAMINIDASE A; HEXA
Remarks: Clinically affected; severe postural hypotension; episodic hypertension; muscular fasciculations of shoulders and arms occurred when erect for 10 minutes; bilateral tarsorraphies since age 5; dense corneal opacity on left; continual overflow tears in right eye; mild scoliosis; azotemia; BUN is 32 and creatinine is 1.6 (rising); persistent proteinuria; mild anemia; no vomiting problems; possible vagal irritation; nocturia; no acute respiratory problems; affected sister is GM09299; unaffected sister is GM09294; mother is GM09300; father is GM09301; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; donor subject is also heterozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 [Asn370Ser (N370S)] [codons are numbered from the first codon of the mature protein; the cDNA is numbered from the first initiating AUG]; donor subject is also homozygous for a benign C>T mutation at nucleotide 739 in exon 7 of the HEXA gene (739C>T) resulting in the substitution of tryptophan for arginine at codon 247 [Arg247Trp (R247W)]
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類(lèi)型: LCL
Source組織來(lái)源: LCL
Gene: GBA HEXA IKBKAP
Disease疾病類(lèi)型:
Mutations突變: ARG247TRP ASN370SER c.2204+6T>C (IVS20+6T>C)
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
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