ID   HT144B
AC   CVCL_UD79
DR   Wikidata; Q94305121
RX   PubMed=28659158;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6617; LIPA; Simple; p.Ala199Cysfs*13 (c.594dupT); ClinVar=VCV000000080; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 6617; LIPA; Simple; p.Gly266Ter (c.796G>T); ClinVar=VCV000000078; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28659158
ST   Amelogenin: X,Y
ST   CSF1PO: 13
ST   D13S317: 11,14
ST   D16S539: 11
ST   D18S51: 15,16
ST   D21S11: 30,32.2
ST   D3S1358: 17
ST   D5S818: 12,13
ST   D7S820: 9,10
ST   D8S1179: 12,13
ST   FGA: 22,23
ST   Penta D: 14
ST   Penta E: 15,16
ST   TH01: 7,9.3
ST   TPOX: 10
ST   vWA: 19
DI   NCIt; C61271; Wolman disease
DI   ORDO; Orphanet_75233; Wolman disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_X456 ! GM06144
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 30-01-24; Version: 12
//
RX   PubMed=28659158; DOI=10.1186/s13023-017-0670-9; PMCID=PMC5490176;
RA   Aguisanda F., Yeh C.D., Chen C.Z., Li R., Beers J.K., Zou J.-H.,
RA   Thorne N., Zheng W.;
RT   "Neural stem cells for disease modeling of Wolman disease and
RT   evaluation of therapeutics.";
RL   Orphanet J. Rare Dis. 12:120.1-120.13(2017).
//