GM27160
Fibroblast from Skin, Skin
Description:
SCHUURS-HOEIJMAKERS SYNDROME; SHMS
PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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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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Asian, Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Indian
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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ISCN
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46,XX[23].arr(1-22,X)x2
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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 |
4.91 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically unaffected; mother of an affected child (GM27159) with a pathogenic de novo heterozygous, missense variant (c.607C>T, p.Arg203Trp) in exon 4 of the PACS1 gene. |
| Cumulative PDL at Freeze |
4.91 |
| Passage Frozen |
3 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
| Supplement |
- |
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