GM27896
iPSC from Fibroblast
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 |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (mRNA)
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Sample Source
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iPSC from Fibroblast
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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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ISCN
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46,XX[20]
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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 |
17 |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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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) |
| Li R, Tsuboi H, Ito H, Takagi D, Chang YH, Shimizu T, Arai Y, Matsuo-Takasaki M, Noguchi M, Nakamura Y, Ohnuma K, Takahashi S, Hayashi Y, Generation of human induced pluripotent stem cell lines derived from two glucose transporter 1 deficiency syndrome patients Stem cell research81:103584 2024 |
| PubMed ID: 39490212 |
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| 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 |
| Passage Frozen |
17 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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