ID   FJMUi001-A
AC   CVCL_UL68
SY   hiPS-SPG76-001; hiPS-SPG76
DR   BioSamples; SAMEA4966481
DR   hPSCreg; FJMUi001-A
DR   Wikidata; Q93554086
RX   PubMed=30611022;
CC   From: Fujian Medical University; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Heterozygous for CAPN1 p.Pro498Leu (c.1493C>T) and p.Arg618Trp (c.1852C>T) (PubMed=30611022).
CC   Derived from sampling site: Skin; dermis.
DI   NCIt; C157150; Spastic paraplegia 76
DI   ORDO; Orphanet_488594; Autosomal recessive spastic paraplegia type 76
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-10-20; Version: 4
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RX   PubMed=30611022; DOI=10.1016/j.scr.2018.11.015;
RA   Lu Y.-Q., Dong E.-L., Yang W.-Q., Lai L.-L., Lin X.-H., Ma L.-X.,
RA   Chen W.-J., Wang N., Lin X.;
RT   "Generation of an integration-free induced pluripotent stem cell line,
RT   FJMUi001-A, from a hereditary spastic paraplegia patient carrying
RT   compound heterozygous p.P498L and p.R618W mutations in CAPN1
RT   (SPG76).";
RL   Stem Cell Res. 34:101354-101354(2019).
//