Name：NTCC? NA05105 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA05105
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: 10 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
Remarks: Clinically affected; absent axon flare; scoliosis; no cyclic vomiting; alacrima; absent fungiform papillae; absent deep tendon reflexes; 25th percentile for weight; drools profusely due to lax lower jaw and decreased swallowing of saliva; moderate restrictive lung disease with poor coordination; sensory impairment greater in left leg and foot compared to the right; joint position abnormal in left foot; slightly impaired cerebellar function; nocturnal enuresis; poor speech and handwriting difficulties; no corneal problems; mild Horner's syndrome; weak jaw and temporalis muscles; weak neck and trapezius muscles; hypertensive when supine; only identified one of four odors; 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; affected brother died at age 19; affected sister is GM05106; father is GM05107; mother is GM05108; unaffected siblings are GM05109, GM05110, GM05111; affected paternal cousin is GM09790.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: IKBKAP
Disease疾病類型:
Mutations突變: 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
Tel電話：400-800-2947
Email：Biovector@163.com
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