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. |
| Lee JA, Conrad JV, Rusteika M, Drissi TH, Zhang T, Liu S, Singla S, Willetts L, Semper C, Rancourt D, Chu LF, Generation of two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube Stem cell research88:103837 2025 |
| PubMed ID: 40997543 |
| 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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