GM29309
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 |
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Biopsy Source
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Skin
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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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French; Ukraine; Scottish, American
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Country of Origin
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SWITZERLAND
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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.688C>T, p.Arg230Cys |
| Remarks |
Clinically affected; age of diagnosis at 1 years old; symptom onset at 3 months of age; microcephaly; axial hyptonia; epilepsy; developmental delay; cannot sit or stand independently; chewing problems with strong pharyngeal reflex; laughs or screams spontaneously; constipation; pronounced sleeping problems, though falls asleep quickly; EEG showed slow activity in some parts of the brain; MRI showed simplified gyral patterns but complete corpus callosum; exome sequencing of exon 1 and confirmation by Sanger sequencing revealed a likely pathogenic de novo heterozygous missense variant in FOXG1, c.688C>T (p.Arg230Cys) hg19 chr14:g.29237173C>T, and a de novo heterozygous nonsense variant in IQGAP2, C.2857C>T (p.Gln953*); array cGH revealed a duplication of 147 kb on chromosome 22, 22q12.3 (chr22:32,538,357 bp to 32,685,852 bp, GRCh37), arr(1-22)x2,(XY)x1; medications include omeprazole, laxipeg, valproate acid, and iron supplements; Management: physical therapy, occupational therapy, and speech language therapy; mother and father with no pathological sequence variant in exon 1 of FOXG1 are GM27243 and GM27242, respectively; lymph is GM27241. 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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