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Cellosaurus XJHi001-A (CVCL_D0Q0)

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Cell line name XJHi001-A
Synonyms iPS131-1
Accession CVCL_D0Q0
Resource Identification Initiative To cite this cell line use: XJHi001-A (RRID:CVCL_D0Q0)
Comments From: Xijing Hospital; Xi'an; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3778; FN1; Simple; c.5888-1G>C; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=37801747).
Disease Glomerulopathy with fibronectin deposits-2 (NCIt: C187984)
Fibronectin glomerulopathy (ORDO: Orphanet_84090)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=37801747; DOI=10.1016/j.scr.2023.103203
Le-Cheng She, Xia-Yin Li, Ming Bai;
Generation of an induced pluripotent stem cell line XJHi001-A from a fibronectin glomerulopathy patient carrying a heterozygous NM_212482.2(C.5888-1G > C) mutation in the FN1 gene.
Stem Cell Res. 72:103203-103203(2023)

Cross-references
Cell line databases/resources hPSCreg; XJHi001-A
Biological sample resources BioSamples; SAMEA113537076
Encyclopedic resources Wikidata; Q123033940
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3