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Cellosaurus WMUi018-A (CVCL_A4XZ)

[Text version]

Cell line name WMUi018-A
Synonyms ABS-UiPSCs
Accession CVCL_A4XZ
Resource Identification Initiative To cite this cell line use: WMUi018-A (RRID:CVCL_A4XZ)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from sampling site: Urine.
Sequence variations Mutation; HGNC; 9208; POR; Simple; p.Arg454His (c.1361G>A) (p.Arg457His, c.1370G>A); ClinVar=VCV000016907; Zygosity=Homozygous (PubMed=33631521).
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (NCIt: C178415)
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis (ORDO: Orphanet_63269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=33631521; DOI=10.1016/j.scr.2021.102261
Guo X.-L., Wang D.-X., Shan X.-O., Yang L., Ding Y.-J., Chen H.-H., Rong X., Chu M.-P., Lin J., Chen C.-D.
Establishment of an induced pluripotent stem cell line from a Antley-Bixler syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.
Stem Cell Res. 52:102261-102261(2021)

Cross-references
Cell line databases/resources hPSCreg; WMUi018-A
Encyclopedic resources Wikidata; Q107117479
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2