GM20613
Fibroblast from Umbilical Cord, Vein, umbilical
Description:
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Vein, umbilical
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Cell Type
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Fibroblast
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Tissue Type
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Umbilical Cord
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Umbilical Cord, Vein, umbilical
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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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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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| PDL at Freeze |
3 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; maternal serum alpha-fetoprotein during mother's pregnancy was 5.10 MOM; amniotic fluid alpha-fetoprotein was 43.34 MOM (494.10 ug/ml); chromosome analysis on amniocentesis sample revealed two cell lines, 46,XY in 15 colonies from 3 independent cultures and 46,XX in 5 colonies from 3 independent cultures; autopsy on fetus of the mother's previous pregnancy diagnosed congenital Finnish nephrosis: electron microscopy documented visceral epithelial cell foot process effacement and microvillous formation and presence of scattered foci of tubular dilatation; NPHS1 mutation analysis on previous fetus was negative; mother is GM20614; father is GM20615 |
| Cumulative PDL at Freeze |
2.76 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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