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Cellosaurus HNMUi004-A (CVCL_A1CA)

[Text version]
Cell line name HNMUi004-A
Synonyms iPS-AF717
Accession CVCL_A1CA
Resource Identification Initiative To cite this cell line use: HNMUi004-A (RRID:CVCL_A1CA)
Comments From: Hainan Medical University; Haikou; China.
Population: Chinese.
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; HGNC:4824; HBA2; Unexplicit; 4.2 kb deletion (alpha4.2 del); ClinVar=VCV000375752; Zygosity=Heterozygous (PubMed=33039806).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Phe42Leufs*19 (c.126_129delCTTT) (c.125_128delTCTT) (CD 41/42); ClinVar=VCV000015417; Zygosity=Homozygous (PubMed=33039806).
Disease Alpha thalassemia (NCIt: C34368)
Beta thalassemia (NCIt: C34375)
Alpha-thalassemia (ORDO: Orphanet_846)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18FW
Category Induced pluripotent stem cell
Publications

PubMed=33039806; DOI=10.1016/j.scr.2020.102014
Long P., Wang Z., Yang H.-M., Liu Z., Wu B.-Y., Zhong G.-B., Chen J.-X., Sun C., Wang F., Zhou Y., Sun F., Li Q., Ma Y.-L.
Generation of nine iPSC lines (HNMUi002-A, HNMUi003-A, HNMUi004-A, HNMUi005-A, HNMUi006-A, HNMUi007-A, HNMUi008-A, HNMUi009-A, HNMUi010-A) from three Chinese families with thalassemia.
Stem Cell Res. 49:102014-102014(2020)

Cross-references
Cell line databases/resources hPSCreg; HNMUi004-A
Biological sample resources BioSamples; SAMEA7484334
Encyclopedic resources Wikidata; Q102114133
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6