Table 1 Information on thalassemia families and established cell lines
Families | Relationship | Genotypes | HGVS nomenclature | Clinical severity | Cell line no. | Package | Sample type |
|---|---|---|---|---|---|---|---|
Family 1 | Husband 1 | –α3.7/αα, Codons 41/42(-TTCT)/βN | NG_000006.1: g.34164_37967del, HBB: c.126_129delCTTT | Thalassemia trait | CNGB030011 | 20 ng/µL, 15 µL/tube | gDNA |
Wife 1 | Gγ(Aγδβ)0/βN | NG_000007.3: g.48795_127698del | Thalassemia trait | CNGB030012 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 1–1 (Proband) | Codons 41/42(-TTCT)/Gγ(Aγδβ)0 | HBB: c.126_129delCTTT, NG_000007.3: g.48795_127698del | Thalassemia major | CNGB030014 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 1–2 (Simulated embryo) | –α3.7/αα, Gγ(Aγδβ)0/βN | NG_000006.1: g.34164_37967del, NG_000007.3: g.48795_127698del | Thalassemia trait | CNGB030013 | 3–5 cells/tube | Cells | |
Family 2 | Husband 2 | --SEA/αα | NG_000006.1: g.26264_45564del | Thalassemia trait | CNGB030015 | 20 ng/µL, 15 µL/tube | gDNA |
Wife 2 | αCSα/αα | HBA2: c.427T > C | Thalassemia trait | CNGB030016 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 2 − 1 (Proband) | --SEA/αCSα | NG_000006.1: g.26264_45564del, HBA2: c.427T > C | Thalassemia intermedia | CNGB030018 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 2–2 (Simulated embryo) | αCSα/αα | HBA2: c.427T > C | Thalassemia trait | CNGB030017 | 3–5 cells/tube | Cells | |
Family 3 | Husband 3 | Gγ(Aγδβ)0/βN | NG_000007.3: g.48795_127698del | Thalassemia trait | CNGB030019 | 20 ng/µL, 15 µL/tube | gDNA |
Wife 3 | Codons 41/42(-TTCT)/βN | HBB: c.126_129delCTTT | Thalassemia trait | CNGB030020 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 3 − 1 (Proband) | Codons 41/42(-TTCT)/Gγ(Aγδβ)0 | HBB: c.126_129delCTTT, NG_000007.3: g.48795_127698del | Thalassemia major | CNGB030328 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 3 − 2 (Simulated embryo) | Gγ(Aγδβ)0/βN | NG_000007.3: g.48795_127698del | Thalassemia trait | CNGB030021 | 3–5 cells/tube | Cells | |
Family 4 | Husband 4 | IVS-II-654 (C > T)/βN | HBB: c.316-197 C > T | Thalassemia trait | CNGB030008 | 20 ng/µL, 15 µL/tube | gDNA |
Wife 4 | --SEA/αα, IVS-II-654 (C > T)/βN | NG_000006.1: g.26264_45564del, HBB: c.316-197 C > T | Thalassemia trait | CNGB030009 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 4 − 1 (Proband) | --SEA/αα, IVS-II-654 (C > T)/IVS-II-654 (C > T) | NG_000006.1: g.26264_45564del, HBB: c.316-197 C > T | Thalassemia intermedia | CNGB030004 | 20 ng/µL, 15 µL/tube | gDNA | |
Offspring 4 − 2 (Simulated embryo) | IVS-II-654 (C > T)/βN | HBB: c.316-197 C > T | Thalassemia trait | CNGB030010 | 3–5 cells/tube | Cells |