AG02505
Fibroblast from Skin, Skin
Description:
MULIBREY NANISM
TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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Race
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White
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Ethnicity
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FINNISH
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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,t(9;19)(9qter>9p13::19p13.3>19pter;19qter>19p13.3::9p13>9pter)[14]/46,XX[36]
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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 |
9 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
TRIM37 |
| Chromosomal Location |
17q22-q23 |
| Allelic Variant 1 |
605073.0001; MULIBREY NANISM |
| Identified Mutation |
493-2A>G |
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| Gene |
TRIM37 |
| Chromosomal Location |
17q22-q23 |
| Allelic Variant 2 |
605073.0001; MULIBREY NANISM |
| Identified Mutation |
493-2A>G |
| Remarks |
The donor was clinically affected. The biopsy was taken 6/20/77. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The donor subject is homozygous for a 5 bp deletion at nucleotides 493-497 of the TRIM37 cDNA. An A>G transition in the genomic sequence altering the consensus dinucleotide sequence of the 3 prime splice site (AG) at position -2 from nucleotide 493 of the cDNA results in aberrant splicing at the next AG site. The cDNA deletion caused a frameshift and predicted a stop codon 10 codons downstream. |
| Cumulative PDL at Freeze |
9.47 |
| Passage Frozen |
8 |
| 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 |
- |
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