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Cellosaurus MHHi029-A (CVCL_D6R2)

[Text version]
Cell line name MHHi029-A
Synonyms F01 clone #20; F01 #20
Accession CVCL_D6R2
Resource Identification Initiative To cite this cell line use: MHHi029-A (RRID:CVCL_D6R2)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4296; GLA; Simple; p.Asn320Ile (c.959A>T); dbSNP=rs869312454; Zygosity=Hemizygous (PubMed=38552356).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=38552356; DOI=10.1016/j.scr.2024.103404
Jahn C., Juchem M., Sonnenschein K., Gietz A., Buchegger T., Lachmann N., Gohring G., Behrens Y.L., Bar C., Thum T., Hoepfner J.
Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation.
Stem Cell Res. 77:103404-103404(2024)

Cross-references
Cell line databases/resources hPSCreg; MHHi029-A
Biological sample resources BioSamples; SAMEA115457276
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1