NA12254
DNA from Fibroblast
Description:
ALAGILLE SYNDROME 1; ALGS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Liver
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Cell Type
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Fibroblast
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Tissue Type
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Liver
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
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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 and by Chromosome Analysis |
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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 |
| 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 |
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