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Cellosaurus TVGH-iPSC-012-04 (CVCL_QY14)

[Text version]
Cell line name TVGH-iPSC-012-04
Synonyms TVGHi002-A
Accession CVCL_QY14
Resource Identification Initiative To cite this cell line use: TVGH-iPSC-012-04 (RRID:CVCL_QY14)
Comments From: Taipei Veterans General Hospital; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12703; BEST1; Simple; p.Glu119Glnfs*3 (c.346_355dupGGCAAGGACG); Zygosity=Unspecified (PubMed=29660606).
Disease Vitelliform macular dystrophy (NCIt: C118788)
Best vitelliform macular dystrophy (ORDO: Orphanet_1243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=29660606; DOI=10.1016/j.scr.2018.03.019
Hsu C.-C., Lu H.-E., Chuang J.-H., Ko Y.-L., Tsai Y.-C., Tai H.-Y., Yarmishyn A.A., Hwang D.-K., Wang M.-L., Yang Y.-P., Chen S.-J., Peng C.-H., Chiou S.-H., Lin T.-C.
Generation of induced pluripotent stem cells from a patient with Best dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.
Stem Cell Res. 29:134-138(2018)

Cross-references
Cell line collections (Providers) BCRC; SC81072
Cell line databases/resources hPSCreg; TVGHi002-A
SKIP; SKIP005668
Encyclopedic resources Wikidata; Q54973396
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10