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GM01209 Fibroblast

Description:

GALACTOSEMIA
MONOZYGOTIC TWIN PAIRS

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity DOMINICAN REPUBLICAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; monozygotic twin (single placenta) of GM01210

Characterizations

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PDL at Freeze 4.36
Passage Frozen 4
 
URACIL DNA GLYCOSYLASE Seal et al (Proc Natl Acad Sci USA 85:2339-2343, 1988) reported that monoclonal antibody, 40.10.09 to normal uracil DNA glycosylase had normal immunoreactivity with the uracil DNA glycosylase from this cell culture. In contrast, the antibody did not recognize or inhibit the native enzyme from five different Bloom syndrome cultures.
 
UDP-glucose--hexose-1-phosphate uridylyltransferase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 0% activity.
 

Phenotypic Data

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Remarks Clinically affected; monozygotic twin (single placenta) of GM01210

Publications

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Reichardt JK, Molecular analysis of 11 galactosemia patients. Nucleic Acids Res19:7049-52 1991
PubMed ID: 1766867
 
Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988
PubMed ID: 3353381

External Links

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dbSNP dbSNP ID: 22724
NCBI GTR 230400 GALACTOSEMIA I; GALAC1
OMIM 230400 GALACTOSEMIA I; GALAC1
Omim Description GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
  GALACTOSEMIA
  GALT DEFICIENCYGALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE; GALT, INCLUDED

Images

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View pedigree 

Culture Protocols

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Passage Frozen 4
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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