Cellosaurus logo
expasy logo

Cellosaurus CMCi006-A (CVCL_A4EQ)

[Text version]
Cell line name CMCi006-A
Synonyms CMC-Fb-001; CMC-Fb-001-hiPSCs; Fb1-hiPSC
Accession CVCL_A4EQ
Resource Identification Initiative To cite this cell line use: CMCi006-A (RRID:CVCL_A4EQ)
Comments From: The Catholic University of Korea; Seoul; South Korea.
Population: Korean.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4296; GLA; Simple; p.Leu324Trpfs*24 (c.969delC); ClinVar=VCV001050825; Zygosity=Hemizygous (PubMed=33545641).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C3QY (CMCi006-A-1)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=33545641; DOI=10.1016/j.scr.2021.102214
Cui S., Shin Y.J., Ko E.J., Lim S.W., Ju J.H., Lee K.I., Lee J.Y., Yang C.W., Chung B.H.
Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation.
Stem Cell Res. 51:102214-102214(2021)

Cross-references
Cell line databases/resources hPSCreg; CMCi006-A
Biological sample resources BioSamples; SAMEA7807666
Encyclopedic resources Wikidata; Q105506649
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number6