Cellosaurus cell line MHHi029-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; MHHi029-A
Biological sample resources	BioSamples; SAMEA115457276
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2