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 Christopher Jahn, Malte Juchem, Kristina Sonnenschein, Anika Gietz, Theresa Buchegger, Nico Lachmann, Gudrun Gohring, Yvonne Lisa Behrens, Christian Bar, Thomas Thum, Jeannine Hoepfner; 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