ID   HT707
AC   CVCL_F0Y7
RX   PubMed=40568761;
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro68Argfs*23 (c.203delC); ClinVar=VCV001321450; Zygosity=Heterozygous (PubMed=40568761).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Ter (c.886C>T) (R247X); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
CH   CVCL_F0Y8 ! HT707 TH-neo
//
RX   PubMed=40568761; DOI=10.1002/mds.30273; PMCID=PMC12371625;
RA   Hertz, Ellen
RA   Rytel, Krystyna
RA   Perez, Gani
RA   Hao, Ying
RA   Li, Zi-Yi
RA   Ma, Charis
RA   Andersh, Katherine M.
RA   Qi, Yue Andy
RA   Ryan, Emory E.
RA   Lopez, Grisel J.
RA   Tayebi, Nahid
RA   Sidransky, Ellen
RA   Chen, Yu
RT   "Evaluation of induced pluripotent stem cell-derived dopaminergic
RT   neurons from siblings with Gaucher disease discordant for
RT   parkinsonism.";
RL   Mov. Disord. 40:1719-1724(2025).
//