GM27897
Fibroblast from Skin, Skin
Description:
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1
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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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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Irish, English, German, Dutch
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Country of Origin
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GERMANY
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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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 |
4.56 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SLC2A1 |
| Chromosomal Location |
1p34.2 |
| Allelic Variant 1 |
; GLUT1 DEFICIENCY SYNDROME 1 |
| Identified Mutation |
c. 1454 C>T (p.Pro485Leu) |
| Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M, Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs Cell175:239-253.e17 2018 |
| PubMed ID: 30197081 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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