| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
KIF1A (NM_004321.7, HG19): WILDTYPE |
| Other variants: |
THIS LINE IS A WILD TYPE CLONE ISOLATED FROM A SUBJECT (GM27937) WHO IS MOSAIC FOR KIF1A MUTATION C.609G>T (R203S) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
17 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Additional Information: |
LEG SPASTICITY; CEREBELLAR ATROPHY |
| Optical and Audiological Symptoms |
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| Additional Information: |
OPTIC ATROPHY |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Global developmental delay
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" Tab. This line is a wildtype clone isolated from a subject (GM27937) who is mosaic for KIF1A mutation C.609G>T (R203S). 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. |