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GM13439 LCL from B-Lymphocyte

Description:

HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I

Affected:

Yes

Sex:

Female

Age:

10 DA (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Amino Acid Metabolism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity JORDANIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Profound hypotonia; elevated CSF glycine; see GM13440 Fibroblast

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Profound hypotonia; elevated CSF glycine; see GM13440 Fibroblast

External Links

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dbSNP dbSNP ID: 16385
Gene Cards AMT
GLDC
Gene Ontology GO:0004047 aminomethyltransferase activity
GO:0004375 glycine dehydrogenase (decarboxylating) activity
GO:0005489 electron transporter activity
GO:0005739 mitochondrion
GO:0005960 glycine cleavage complex
GO:0005961 glycine dehydrogenase complex (decarboxylating)
GO:0006546 glycine catabolism
GO:0008483 transaminase activity
GO:0016491 oxidoreductase activity
GO:0016740 transferase activity
NCBI Gene Gene ID:2731
Gene ID:275
NCBI GTR 238300 GLYCINE DECARBOXYLASE; GLDC
238310 AMINOMETHYLTRANSFERASE; AMT
OMIM 238300 GLYCINE DECARBOXYLASE; GLDC
238310 AMINOMETHYLTRANSFERASE; AMT
Omim Description GLYCINE DECARBOXYLASE, INCLUDED; GLDC, INCLUDED
  GLYCINE DEHYDROGENASE, INCLUDED
  HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I
  NKH1GLYCINE CLEAVAGE SYSTEM P PROTEIN, INCLUDED; GCSP, INCLUDED
  AMINOMETHYLTRANSFERASE, INCLUDED; AMT, INCLUDED
  HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II
  NKH2GLYCINE CLEAVAGE SYSTEM T PROTEIN, INCLUDED; GCST, INCLUDED

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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