ID   MHHi029-A
AC   CVCL_D6R2
SY   F01 clone #20; F01 #20
DR   BioSamples; SAMEA115457276
DR   hPSCreg; MHHi029-A
RX   PubMed=38552356;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Asn320Ile (c.959A>T); dbSNP=rs869312454; Zygosity=Hemizygous (PubMed=38552356).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38552356; DOI=10.1016/j.scr.2024.103404;
RA   Jahn C., Juchem M., Sonnenschein K., Gietz A., Buchegger T.,
RA   Lachmann N., Gohring G., Behrens Y.L., Bar C., Thum T., Hoepfner J.;
RT   "Generation of human induced pluripotent stem cell line MHHi029-A from
RT   a male Fabry disease patient carrying c.959A > T mutation.";
RL   Stem Cell Res. 77:103404-103404(2024).
//