GM28578
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
FOXG1
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 (Sendai)
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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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Country of Origin
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FRANCE
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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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| 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 |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.975_975insA |
| Remarks |
Externally reprogrammed from parental line GM27462 (fibroblast); clinically affected; diagnosed at age 2 and symptom onset at 4 months; cannot sit or walk; hypotonia; heterozygous mutation in exon 1 in FOXG1 gene found c.975_975insA/- found through allele-specific quantitative PCR; assistive devices include a wheelchair, orthotics, and physical therapy; medications include xenazine and artane; same donor as GM27335 (lymphocyte). 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 Sendai-CytoTune. |
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