GM25255
Fibroblast from Skin, Fetal
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Fetal
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Fetal
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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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Native American, Mexican
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| PDL at Freeze |
0 |
| Passage Frozen |
0 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; prenatal onset of symptoms; diagnosed at 17 weeks gestation by maternal fetal medicine/genetic counselor (prenatal testing); early vaginal delivery induced at 18 weeks gestation; grossly abnormal fetal cranial anatomy; ultrasound revealed findings consistent with anencephaly (severe neural tube defect): abnormal fetal cranium, cavum, ventricles, choroid plexus, cerebellum, and posterior fossa; biometrics: AC 114.7 mm (53%), FL 22.8 mm (34%), HUM 23 mm (55%), FL/AC 19.9%, estimated FW 177 gm or 6 oz (52%); family history: maternal grandmother has diabetes, hypertension and thyroid cancer, maternal grandfather has back problems and ADD; maternal great aunt (great grandfather's sister) had five sons with intellectual disabilities, paternal grandmother has chronic bronchitis; no family members are in the repository. |
| Passage Frozen |
0 |
| Split Ratio |
1:15 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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