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Cellosaurus HUSTi002-A (CVCL_YR04)

[Text version]
Cell line name HUSTi002-A
Accession CVCL_YR04
Resource Identification Initiative To cite this cell line use: HUSTi002-A (RRID:CVCL_YR04)
Comments From: Huazhong University of Science and Technology Tongji Medicine College; Wuhan; China.
Population: Chinese; Han.
Derived from site: In situ; Scrotum, skin; UBERON=UBERON_0015479.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:17644; PIWIL2; Simple; p.His244Argfs (c.731_732delAT); Zygosity=Homozygous (PubMed=32006804).
Disease Sertoli cell-only syndrome (NCIt: C168988)
Male infertility with spermatogenesis disorder due to single gene mutation (ORDO: Orphanet_399786)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32006804

Markers:
AmelogeninX,Y
CSF1PO12
D5S81812,13
D7S82011,12
D13S31711
D16S53910
D21S1130,32.2
TH016
TPOX9
vWA14,17

Run an STR similarity search on this cell line
Publications

PubMed=32006804; DOI=10.1016/j.scr.2020.101703
Wang X.-T., Xie S.-M., Li Z.-L., Ye Z., Gu X.-L., Zhou L.-Q., Li H.-G.
Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
Stem Cell Res. 42:101703-101703(2020)

Cross-references
Cell line databases/resources hPSCreg; HUSTi002-A
SKIP; SKIP005639
Encyclopedic resources Wikidata; Q94309394
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10