GM27629
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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White
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Ethnicity
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British
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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[24].arr[hg19] 6p25.1(5,200,030-5,604,647)x1
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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 |
13 |
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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 |
Asn232Ser; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.695A>G (p.N232S) |
| Remarks |
Clinically affected; pregnancy normal, but reduced fetal movements compared to older sibling; birth at full term 8lbs 8oz; feeding problems at birth, with slow weight gain untilable to pick up food and self feed at 3 yrs; delay in milestones: smiled at 10m; stood at 18m but left-side neglect; walked at 34m; dystonia from 2yrs (improved with dopamine from 16 years); speech: occasional words from 3 yrs, no fluency until improvement when dopamine given for the dystonia - this led to phrases and ‘almost sentences’; no surgery; seizures: some febrile seizures from 18m: 10 in total' bad spell at 4yrs, last fit at 6 yrs; MRI scans have shown delayed myelination with deficiency of the anterior corpus callosum, cerebellar hypoplasia and frontal underdevelopment; mutation in FOXG1 gene: c.695A>G (p.N232S); sleep problems managed by Clonidine; speech and movement improved with Levodopa; family history: mother had an aneurysmal subarachnoid hemorrhage, paternal grandfather had a subarachnoid hemorrhage. 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.. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
| Passage Frozen |
13 |
| 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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