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GM12254 Fibroblast from Liver, Liver

Description:

ALAGILLE SYNDROME 1; ALGS1

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Biopsy Source Liver
Cell Type Fibroblast
Tissue Type Liver
Transformant Untransformed
Sample Source Fibroblast from Liver, Liver
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Liver biopsy fibroblast culture; jaundice; posterior embryotoxon; butterfly vertebrae; peripheral pulmonic stenosis; 46,XX in PBL & fibroblast culture; parents are GM12132 & 12133 Lymphoid

Characterizations

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

Phenotypic Data

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Remarks Liver biopsy fibroblast culture; jaundice; posterior embryotoxon; butterfly vertebrae; peripheral pulmonic stenosis; 46,XX in PBL & fibroblast culture; parents are GM12132 & 12133 Lymphoid

Publications

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Ding C, Cantor CR, Direct molecular haplotyping of long-range genomic DNA with M1-PCR. Proc Natl Acad Sci U S A100(13):7449-53 2003
PubMed ID: 12802015

External Links

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dbSNP dbSNP ID: 20931
NCBI GTR 118450 ALAGILLE SYNDROME 1; ALGS1
OMIM 118450 ALAGILLE SYNDROME 1; ALGS1
Omim Description ALAGILLE SYNDROME; AGS
  ALAGILLE-WATSON SYNDROME; AWS
  ARTERIOHEPATIC DYSPLASIA; AHD
  CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
  SYNDROMATIC HEPATIC DUCTULAR HYPOPLASIA

Culture Protocols

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Passage Frozen 6
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
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
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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