GM27624
iPSC from Fibroblast
Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample
FOXG1 |
| 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 (Episomal)
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Sample Source
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iPSC from Fibroblast
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Race
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Unknown
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Country of Origin
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UNITED KINGDOM
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY[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 |
16 |
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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 and PluriTest. 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. |
| |
| Gene |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; |
| Identified Mutation |
gene deleted |
| Remarks |
iPSC line reprogrammed from parental fibroblast line GM27615; clinically affected; diagnosed based on aCGH results at nearly 2 years; symptoms since birth: stridor leading to ventilation; smiled at 6m; feeding problems: unsafe swallow despite fundoplication at 7m and PEG-fed since then; movement disorder: severe and unremitting; unable to sit when assessed at 5y 10m; seizures: one full seizure noted but many absences; mutation in FOXG1 gene: whole gene. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia, Japan Inc.. |
| Passage Frozen |
16 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
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